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Stephen Scherer

TitleScientist
InstitutionThe Hospital for Sick Children
DepartmentGenetics and Genome Biology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. N Engl J Med. 2019 04 11; 380(15):1433-1441. PMID: 30970188.
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    2. Zaslavsky K, Zhang WB, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, Mufteev M, Pasceri P, Scherer SW, Salter MW, Ellis J. SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons. Nat Neurosci. 2019 Apr; 22(4):556-564. PMID: 30911184.
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    3. Hoffman M, Gillmor A, Kunz DJ, Johnston MJ, Nikolic A, Narta K, Zarrei M, King JC, Ellestad K, Dang NH, Cavalli FMG, Kushida M, Coutinho FJ, Zhu Y, Luu B, Ma Y, Mungall AJ, Moore RA, Marra MA, Taylor MD, Pugh TJ, Dirks PB, Strother D, Lafay-Cousin L, Resnick AC, Scherer SW, Senger DL, Simons BD, Chan JA, Morrissy AS, Gallo M. Intratumoral genetic and functional heterogeneity in pediatric glioblastoma. Cancer Res. 2019 Mar 15. PMID: 30877103.
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    4. Davis JM, Heft I, Scherer SW, Sikela JM. A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism. Am J Psychiatry. 2019 Feb 15; appiajp201818080993. PMID: 30764650.
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    5. Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, Singh KK, Ellis J, Scherer SW. CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. Elife. 2019 Feb 12; 8. PMID: 30747104.
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    6. Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 2019 Feb 12; 12(2):427-429. PMID: 30759379.
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    7. Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. J Neurodev Disord. 2019 Feb 07; 11(1):3. PMID: 30732576.
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    8. Baribeau DA, Dupuis A, Paton TA, Hammill C, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, Anagnostou E. Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. Transl Psychiatry. 2019 Feb 04; 9(1):72. PMID: 30718456.
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    9. Rezazadeh A, Uddin M, Snead OC, Lira V, Silberberg A, Weiss S, Donner EJ, Zak M, Bradbury L, Scherer SW, Fasano A, Andrade DM. STXBP1 encephalopathy is associated with awake bruxism. Epilepsy Behav. 2019 Mar; 92:121-124. PMID: 30654231.
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    10. Vevera J, Zarrei M, Hartmannová H, Jedlicková I, Mušálková D, Pristoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodanová K, Stránecký V, Jiricka V, Preiss M, Príhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S. Rare copy number variation in extremely impulsively violent males. Genes Brain Behav. 2018 Nov 08; e12536. PMID: 30411505.
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    11. Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. Stem Cell Reports. 2018 Nov 13; 11(5):1211-1225. PMID: 30392976.
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    12. Alkhater RA, Scherer SW, Minassian BA, Walker S. PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome. Ann Clin Transl Neurol. 2018 Dec; 5(12):1617-1621. PMID: 30564627.
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    13. Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. J Med Genet. 2018 Oct 16. PMID: 30327448.
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    14. Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. Genet Med. 2019 04; 21(4):1021-1026. PMID: 30293988.
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    15. Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. Genet Med. 2019 04; 21(4):1001-1007. PMID: 30232381.
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    16. Hoang N, Buchanan JA, Scherer SW. Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders. NPJ Genom Med. 2018; 3:27. PMID: 30275975.
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    17. Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A. Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. Science. 2018 08 31; 361(6405). PMID: 30166462.
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    18. Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B. Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. J Med Genet. 2018 Dec; 55(12):847-852. PMID: 30007940.
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    19. Selvanayagam T, Walker S, Gazzellone MJ, Kellam B, Cytrynbaum C, Stavropoulos DJ, Li P, Birken CS, Hamilton J, Weksberg R, Scherer SW. Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. Eur J Hum Genet. 2018 11; 26(11):1588-1596. PMID: 29976977.
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    20. Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018 06 22; 360(6395). PMID: 29930110.
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    21. Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P. A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. J Neurodev Disord. 2018 Jun 11; 10(1):20. PMID: 29890955.
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    22. Uddin KMF, Amin R, Majumder SN, Aleem MA, Rahaman A, Dity NJ, Baqui MDA, Akter H, Rahman MM, Woodbury-Smith M, Scherer S, Uddin M. An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). Clin Case Rep. 2018 Aug; 6(8):1426-1430. PMID: 30147876.
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    23. Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA. Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing. Neurol Genet. 2018 Jun; 4(3):e242. PMID: 29845114.
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    24. Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Paternally inherited cis-regulatory structural variants are associated with autism. Science. 2018 04 20; 360(6386):327-331. PMID: 29674594.
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    25. Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. J Med Genet. 2018 May; 55(5):316-321. PMID: 29599419.
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    26. Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3 (Bethesda). 2018 03 28; 8(4):1115-1118. PMID: 29438995.
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    27. Woodbury-Smith M, Scherer SW. Progress in the genetics of autism spectrum disorder. Dev Med Child Neurol. 2018 05; 60(5):445-451. PMID: 29574884.
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    28. Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ. Improving imputation in disease-relevant regions: lessons from cystic fibrosis. NPJ Genom Med. 2018; 3:8. PMID: 29581887.
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    29. Zarrei M, Hicks GG, Reynolds JN, Thiruvahindrapuram B, Engchuan W, Pind M, Lamoureux S, Wei J, Wang Z, Marshall CR, Wintle RF, Chudley AE, Scherer SW. Copy number variation in fetal alcohol spectrum disorder. Biochem Cell Biol. 2018 04; 96(2):161-166. PMID: 29533680.
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    30. Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, Calderon de Anda F. Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. Mol Psychiatry. 2018 Feb 21. PMID: 29467497.
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    31. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 05; 26(5):740-744. PMID: 29453418.
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    32. Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ. 2018 02 05; 190(5):E126-E136. PMID: 29431110.
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    33. Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. Am J Hum Genet. 2018 02 01; 102(2):278-295. PMID: 29395074.
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    34. Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S. Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. Twin Res Hum Genet. 2018 02; 21(1):1-11. PMID: 29307321.
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    35. Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. Am J Hum Genet. 2018 01 04; 102(1):142-155. PMID: 29304372.
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    36. Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017 Dec; 3(6):e199. PMID: 29264391.
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    37. de Jesús Ascencio-Montiel I, Pinto D, Parra EJ, Valladares-Salgado A, Cruz M, Scherer SW. Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. Sci Rep. 2017 Dec 06; 7(1):17105. PMID: 29213072.
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    38. Fernandez BA, Scherer SW. Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. Dialogues Clin Neurosci. 2017 12; 19(4):353-371. PMID: 29398931.
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    39. Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. Genome Med. 2017 11 30; 9(1):105. PMID: 29187259.
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    40. Zhang Y, Liu Y, Zarrei M, Tong W, Dong R, Wang Y, Zhang H, Yang X, MacDonald JR, Uddin M, Scherer SW, Gai Z. Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan; 177(1):93-100. PMID: 29152845.
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    41. Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. Eur J Hum Genet. 2017 12; 25(12):1303-1312. PMID: 29158552.
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    42. Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW. Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. Mol Autism. 2017; 8:59. PMID: 29152164.
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    43. Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT. Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage. NPJ Genom Med. 2017; 2:28. PMID: 29263838.
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    44. Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA. Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. Neurol Genet. 2017 Oct; 3(5):e189. PMID: 28955728.
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    45. Baribeau DA, Dupuis A, Paton TA, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Lerch J, Anagnostou E. Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders. Sci Rep. 2017 09 14; 7(1):11618. PMID: 28912494.
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    46. Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. Am J Med Genet A. 2017 Nov; 173(11):3070-3074. PMID: 28898547.
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    47. Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. Am J Med Genet A. 2017 Oct; 173(10):2725-2730. PMID: 28840640.
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    48. Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, Gorter JW, Hunt C, Kawamura A, Kim M, McCormick A, Mesterman R, Samdup D, Marshall CR, Stavropoulos DJ, Wintle RF, Scherer SW. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. Genet Med. 2018 02; 20(2):172-180. PMID: 28771244.
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    49. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    50. Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A. Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. Int J Mol Sci. 2017 Jul 31; 18(8). PMID: 28758966.
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    51. Hoang N, Cytrynbaum C, Scherer SW. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Patient Educ Couns. 2018 02; 101(2):352-361. PMID: 28803755.
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    52. Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017 11 01; 174(11):1054-1063. PMID: 28750581.
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    53. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. PMID: 28714951.
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    54. Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Mol Autism. 2017; 8:31. PMID: 28670437.
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    55. Bassett AS, Scherer SW. Copy Number Variation in Tourette Syndrome. Neuron. 2017 Jun 21; 94(6):1041-1043. PMID: 28641101.
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    56. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017 Jun; 3(3):e148. PMID: 28589176.
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    57. Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. NPJ Genom Med. 2017; 2:19. PMID: 29263831.
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    58. Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA. Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. Neurol Genet. 2017 Jun; 3(3):e156. PMID: 28626794.
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    59. Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y. The clinical impact of copy number variants in inherited bone marrow failure syndromes. NPJ Genom Med. 2017 May 10; 2. PMID: 28690869.
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    60. Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017 May 04; 100(5):773-788. PMID: 28475860.
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    61. Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ. A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genet Med. 2017 11; 19(11):1268-1275. PMID: 28471434.
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    62. Woodbury-Smith M, Nicolson R, Zarrei M, Yuen RKC, Walker S, Howe J, Uddin M, Hoang N, Buchanan JA, Chrysler C, Thompson A, Szatmari P, Scherer SW. Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. NPJ Genom Med. 2017 May 03; 2. PMID: 28649445.
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    63. Adamek M, Döhler B, Hasan KK, Fiedler G, Scherer S, Opelz G, Tran TH. Assessing the impact of FoxP3 and Vav1 gene polymorphisms on kidney allograft survival. HLA. 2017 08; 90(2):102-105. PMID: 28470865.
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    64. Butcher NJ, Merico D, Zarrei M, Ogura L, Marshall CR, Chow EWC, Lang AE, Scherer SW, Bassett AS. Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. PLoS One. 2017; 12(4):e0173944. PMID: 28430790.
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    65. Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. Am J Med Genet A. 2017 May; 173(5):1287-1293. PMID: 28371330.
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    66. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611. PMID: 28263302.
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    67. Lok S, Paton TA, Wang Z, Kaur G, Walker S, Yuen RK, Sung WW, Whitney J, Buchanan JA, Trost B, Singh N, Apresto B, Chen N, Coole M, Dawson TJ, Ho K, Hu Z, Pullenayegum S, Samler K, Shipstone A, Tsoi F, Wang T, Pereira SL, Rostami P, Ryan CA, Tong AH, Ng K, Sundaravadanam Y, Simpson JT, Lim BK, Engstrom MD, Dutton CJ, Kerr KC, Franke M, Rapley W, Wintle RF, Scherer SW. De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis). G3 (Bethesda). 2017 02 09; 7(2):755-773. PMID: 28087693.
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    68. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562. PMID: 28062395.
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    69. Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Ann Rheum Dis. 2017 May; 76(5):906-913. PMID: 27927641.
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    71. Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS. Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. Am J Hum Genet. 2016 Dec 01; 99(6):1359-1367. PMID: 27866705.
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    72. Kwan V, Meka DP, White SH, Hung CL, Holzapfel NT, Walker S, Murtaza N, Unda BK, Schwanke B, Yuen RKC, Habing K, Milsom C, Hope KJ, Truant R, Scherer SW, Calderon de Anda F, Singh KK. DIXDC1 Phosphorylation and Control of Dendritic Morphology Are Impaired by Rare Genetic Variants. Cell Rep. 2016 11 08; 17(7):1892-1904. PMID: 27829159.
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    73. Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017 Feb; 173(2):395-406. PMID: 27759917.
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    74. Gazzellone MJ, Zarrei M, Burton CL, Walker S, Uddin M, Shaheen SM, Coste J, Rajendram R, Schachter RJ, Colasanto M, Hanna GL, Rosenberg DR, Soreni N, Fitzgerald KD, Marshall CR, Buchanan JA, Merico D, Arnold PD, Scherer SW. Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. J Neurodev Disord. 2016; 8:36. PMID: 27777633.
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    75. Abu-Elmagd M, Assidi M, Dallol A, Buhmeida A, Pushparaj PN, Kalamegam G, Al-Hamzi E, Shay JW, Scherer SW, Agarwal A, Budowle B, Gari M, Chaudhary A, Abuzenadah A, Al-Qahtani M. The Third International Genomic Medicine Conference (3rd IGMC, 2015): overall activities and outcome highlights. BMC Genomics. 2016 10 17; 17(Suppl 9):747. PMID: 27766952.
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    76. Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, Leung GKC, Yeung KS, Chau AKT, Lowther C, Scherer SW, Marshall CR, Bassett AS, Chung BHY. De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients. NPJ Genom Med. 2016; 1:16033. PMID: 29263819.
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    77. Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. Am J Med Genet A. 2016 11; 170(11):3018-3022. PMID: 27531570.
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    78. Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW. Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med. 2016 Aug 03; 1:160271-1602710. PMID: 27525107.
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    79. Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP. Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. J Med Genet. 2016 12; 53(12):812-819. PMID: 27489308.
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    80. Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. Am J Med Genet A. 2016 10; 170(10):2731-9. PMID: 27374371.
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    81. Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Sci Rep. 2016 07 01; 6:28663. PMID: 27363808.
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    82. Lionel AC, Monfared N, Scherer SW, Marshall CR, Mercimek-Mahmutoglu S. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. Am J Med Genet A. 2016 09; 170(9):2421-5. PMID: 27311965.
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    83. Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry. 2017 06; 22(6):836-849. PMID: 27240531.
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    84. Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genet Med. 2017 01; 19(1):53-61. PMID: 27195815.
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    85. Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mol Psychiatry. 2017 04; 22(4):625-633. PMID: 27166760.
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    86. Yong RY, Mustaffa SB, Wasan PS, Sheng L, Marshall CR, Scherer SW, Teo YY, Yap EP. Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts. Hum Mutat. 2016 07; 37(7):669-78. PMID: 27068483.
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    87. Zurek AA, Kemp SW, Aga Z, Walker S, Milenkovic M, Ramsey AJ, Sibille E, Scherer SW, Orser BA. a5GABAA receptor deficiency causes autism-like behaviors. Ann Clin Transl Neurol. 2016 05; 3(5):392-8. PMID: 27231709.
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    88. Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG. Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. J Med Genet. 2016 08; 53(8):536-47. PMID: 27073233.
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    89. Boon-Peng H, Mat Jusoh JA, Marshall CR, Majid F, Danuri N, Basir F, Thiruvahindrapuram B, Scherer SW, Yusoff K. Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. PLoS One. 2016; 11(3):e0148755. PMID: 26930585.
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    90. Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. J Pediatr. 2016 Apr; 171:313-6.e1-2. PMID: 26825290.
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    94. Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. Pediatrics. 2016 Jan; 137(1). PMID: 26684475.
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    95. Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A. 2015 Dec 29; 112(52):15970-5. PMID: 26598658.
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    96. Costain G, Lionel AC, Ogura L, Marshall CR, Scherer SW, Silversides CK, Bassett AS. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. Int J Cardiol. 2016 Feb 01; 204:115-21. PMID: 26655555.
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    97. Thapar A, Martin J, Mick E, Arias Vásquez A, Langley K, Scherer SW, Schachar R, Crosbie J, Williams N, Franke B, Elia J, Glessner J, Hakonarson H, Owen MJ, Faraone SV, O'Donovan MC, Holmans P. Psychiatric gene discoveries shape evidence on ADHD's biology. Mol Psychiatry. 2016 09; 21(9):1202-7. PMID: 26573769.
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    98. Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. Nat Commun. 2015 Nov 02; 6:8718. PMID: 26522830.
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    99. Costain G, Roche SL, Scherer SW, Silversides CK, Bassett AS. Rare copy number variations in an adult with transposition of the great arteries emphasize the importance of updated genetic assessments in syndromic congenital cardiac disease. Int J Cardiol. 2016 Jan 15; 203:516-8. PMID: 26551885.
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    100. Merico D, Zarrei M, Costain G, Ogura L, Alipanahi B, Gazzellone MJ, Butcher NJ, Thiruvahindrapuram B, Nalpathamkalam T, Chow EW, Andrade DM, Frey BJ, Marshall CR, Scherer SW, Bassett AS. Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda). 2015 Sep 16; 5(11):2453-61. PMID: 26384369.
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    101. Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y. Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN). J Med Genet. 2015 Nov; 52(11):738-48. PMID: 26342108.
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    102. Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D'Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. JAMA. 2015 Sep 01; 314(9):895-903. PMID: 26325558.
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    103. Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW. Clinically relevant copy number variations detected in cerebral palsy. Nat Commun. 2015 Aug 03; 6:7949. PMID: 26236009.
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    104. Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. Acta Neuropathol Commun. 2015 Jul 25; 3:44. PMID: 26205529.
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    105. Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, Hall DA, Dell SD, Kim RH. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda). 2015 Jul 02; 5(8):1775-81. PMID: 26139845.
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    106. Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley T, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes. Hum Mutat. 2015 Jul; 36(7):689-93. PMID: 25884337.
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    107. Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Hum Mutat. 2015 Sep; 36(9):842-50. PMID: 26010655.
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    108. Voronova A, Gallagher D, Zander M, Cancino G, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Springerplus. 2015; 4(Suppl 1):L28. PMID: 27386191.
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    109. Buchanan JA, Chitayat D, Kolomietz E, Lee HC, Scherer SW, Speevak MD, Sroka H, Stavropoulos DJ. Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus. J Med Genet. 2015 Sep; 52(9):585-6. PMID: 26041758.
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    110. Uddin M, Codner D, Hasan SM, Scherer SW, O'Rielly DD, Rahman P. Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways. Sci Rep. 2015 May 18; 5:10314. PMID: 25980808.
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    111. Liu Y, Zhang Y, Zhao D, Dong R, Yang X, Tammimies K, Uddin M, Scherer SW, Gai Z. Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2015 Jun; 168B(4):258-64. PMID: 25921429.
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    112. Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB. CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. J Child Neurol. 2015 Nov; 30(13):1749-56. PMID: 25895915.
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    113. Liu Y, Zhao D, Dong R, Yang X, Zhang Y, Tammimies K, Uddin M, Scherer SW, Gai Z. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review. Am J Med Genet A. 2015 Jun; 167(6):1381-5. PMID: 25851617.
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    114. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun; 138(Pt 6):1505-17. PMID: 25808372.
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    115. Rucker JJ, Tansey KE, Rivera M, Pinto D, Cohen-Woods S, Uher R, Aitchison KJ, Craddock N, Owen MJ, Jones L, Jones I, Korszun A, Barnes MR, Preisig M, Mors O, Maier W, Rice J, Rietschel M, Holsboer F, Farmer AE, Craig IW, Scherer SW, McGuffin P, Breen G. Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. Biol Psychiatry. 2016 Feb 15; 79(4):329-36. PMID: 25861698.
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    116. Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome. Nat Rev Genet. 2015 03; 16(3):172-83. PMID: 25645873.
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    117. Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers. Nat Genet. 2015 Mar; 47(3):257-62. PMID: 25642631.
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    118. Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, Thompson A, Zarrei M, Uddin M, Marshall CR, Ring RH, Zwaigenbaum L, Ray PN, Weksberg R, Carter MT, Fernandez BA, Roberts W, Szatmari P, Scherer SW. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015 Feb; 21(2):185-91. PMID: 25621899.
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    119. Engchuan W, Dhindsa K, Lionel AC, Scherer SW, Chan JH, Merico D. Performance of case-control rare copy number variation annotation in classification of autism. BMC Med Genomics. 2015; 8 Suppl 1:S7. PMID: 25783485.
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    120. Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. BMC Genomics. 2015; 16 Suppl 1:S12. PMID: 25923536.
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    121. Abu-Elmagd M, Assidi M, Schulten HJ, Dallol A, Pushparaj P, Ahmed F, Scherer SW, Al-Qahtani M. Individualized medicine enabled by genomics in Saudi Arabia. BMC Med Genomics. 2015; 8 Suppl 1:S3. PMID: 25951871.
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    122. Meyer M, Reimand J, Lan X, Head R, Zhu X, Kushida M, Bayani J, Pressey JC, Lionel AC, Clarke ID, Cusimano M, Squire JA, Scherer SW, Bernstein M, Woodin MA, Bader GD, Dirks PB. Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity. Proc Natl Acad Sci U S A. 2015 Jan 20; 112(3):851-6. PMID: 25561528.
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    123. Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. 2015 Jan 12; 32(1):31-42. PMID: 25556659.
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    124. Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 Jan 09; 347(6218):1254806. PMID: 25525159.
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    125. Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW. A high-resolution copy-number variation resource for clinical and population genetics. Genet Med. 2015 Sep; 17(9):747-52. PMID: 25503493.
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    126. Mowjoodi A, Paton TA, Scherer SW. Discrimination of SNPs in GC-rich regions using a modified hydrolysis probe chemistry protocol. Biotechniques. 2014 Dec; 57(6):313-6. PMID: 25495732.
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    127. Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW. Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Hum Genet. 2015 Feb; 134(2):191-201. PMID: 25432440.
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    128. Merikangas AK, Segurado R, Heron EA, Anney RJ, Paterson AD, Cook EH, Pinto D, Scherer SW, Szatmari P, Gill M, Corvin AP, Gallagher L. The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Mol Psychiatry. 2015 Nov; 20(11):1366-72. PMID: 25421404.
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    129. Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Hum Mutat. 2014 Nov; 35(11):1295-300. PMID: 25196122.
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    131. Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015 Sep; 88(3):224-33. PMID: 25131214.
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    132. Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol. 2014 Nov; 76(5):758-64. PMID: 25223753.
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    133. Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014 Sep; 10(9):e1004580. PMID: 25188300.
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    135. Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genet Med. 2015 Feb; 17(2):149-57. PMID: 25077648.
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    136. McCrindle BW, Clarizia NA, Khaikin S, Holtby HM, Manlhiot C, Schwartz SM, Caldarone CA, Coles JG, Van Arsdell GS, Scherer SW, Redington AN. Remote ischemic preconditioning in children undergoing cardiac surgery with cardiopulmonary bypass: a single-center double-blinded randomized trial. J Am Heart Assoc. 2014 Jul 28; 3(4). PMID: 25074698.
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    137. Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet. 2015 Mar; 23(3):310-6. PMID: 24961627.
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    138. McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry. 2014 Aug; 53(8):910-9. PMID: 25062598.
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    140. Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ, Arnar DO, Hólm H, Thorsteinsdottir U, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet. 2014 Aug; 46(8):826-36. PMID: 24952745.
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    141. Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 2014 Sep; 147(3):595-598.e5. PMID: 24941021.
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    142. Deng L, Hoh BP, Lu D, Fu R, Phipps ME, Li S, Nur-Shafawati AR, Hatin WI, Ismail E, Mokhtar SS, Jin L, Zilfalil BA, Marshall CR, Scherer SW, Al-Mulla F, Xu S. The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia. Hum Genet. 2014 Sep; 133(9):1169-85. PMID: 24916469.
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    143. Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW, Friedman JM, Michaud JL, Boycott KM. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project. Am J Hum Genet. 2014 Jun 05; 94(6):809-17. PMID: 24906018.
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    144. Warnica W, Merico D, Costain G, Alfred SE, Wei J, Marshall CR, Scherer SW, Bassett AS. Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry. 2015 Jan 15; 77(2):158-66. PMID: 25034949.
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    145. Uddin M, Tammimies K, Pellecchia G, Alipanahi B, Hu P, Wang Z, Pinto D, Lau L, Nalpathamkalam T, Marshall CR, Blencowe BJ, Frey BJ, Merico D, Yuen RK, Scherer SW. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. Nat Genet. 2014 Jul; 46(7):742-7. PMID: 24859339.
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    146. Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, Pinto D, Poustka F, Scherer SW, Shih A, Sutcliffe JS, Szatmari P, Vicente AM, Vieland V, Gallagher L. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Mol Autism. 2014; 5:34. PMID: 25392729.
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    147. Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS. Adult neuropsychiatric expression and familial segregation of 2q13 duplications. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun; 165B(4):337-44. PMID: 24807792.
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    148. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 01; 94(5):677-94. PMID: 24768552.
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    149. Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014; 6(1):9. PMID: 24834135.
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    150. Martin J, Cooper M, Hamshere ML, Pocklington A, Scherer SW, Kent L, Gill M, Owen MJ, Williams N, O'Donovan MC, Thapar A, Holmans P. Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. J Am Acad Child Adolesc Psychiatry. 2014 Jul; 53(7):761-70.e26. PMID: 24954825.
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    151. Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM. Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Mol Autism. 2014 Apr 10; 5(1):28. PMID: 24720851.
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    152. Noor A, Lionel AC, Cohen-Woods S, Moghimi N, Rucker J, Fennell A, Thiruvahindrapuram B, Kaufman L, Degagne B, Wei J, Parikh SV, Muglia P, Forte J, Scherer SW, Kennedy JL, Xu W, McGuffin P, Farmer A, Strauss J, Vincent JB. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun; 165B(4):303-13. PMID: 24700553.
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    153. Kamien B, Lionel AC, Bain N, Scherer SW, Hunter M. Outfoxed by RBFOX1-a caution about ascertainment bias. Am J Med Genet A. 2014 Jun; 164A(6):1411-8. PMID: 24664471.
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    154. Egger G, Roetzer KM, Noor A, Lionel AC, Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR, Windpassinger C, Petek E, Scherer SW, Kaschnitz W, Vincent JB. Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics. 2014 May; 15(2):117-27. PMID: 24643514.
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    155. Mack SC, Witt H, Piro RM, Gu L, Zuyderduyn S, Stütz AM, Wang X, Gallo M, Garzia L, Zayne K, Zhang X, Ramaswamy V, Jäger N, Jones DT, Sill M, Pugh TJ, Ryzhova M, Wani KM, Shih DJ, Head R, Remke M, Bailey SD, Zichner T, Faria CC, Barszczyk M, Stark S, Seker-Cin H, Hutter S, Johann P, Bender S, Hovestadt V, Tzaridis T, Dubuc AM, Northcott PA, Peacock J, Bertrand KC, Agnihotri S, Cavalli FM, Clarke I, Nethery-Brokx K, Creasy CL, Verma SK, Koster J, Wu X, Yao Y, Milde T, Sin-Chan P, Zuccaro J, Lau L, Pereira S, Castelo-Branco P, Hirst M, Marra MA, Roberts SS, Fults D, Massimi L, Cho YJ, Van Meter T, Grajkowska W, Lach B, Kulozik AE, von Deimling A, Witt O, Scherer SW, Fan X, Muraszko KM, Kool M, Pomeroy SL, Gupta N, Phillips J, Huang A, Tabori U, Hawkins C, Malkin D, Kongkham PN, Weiss WA, Jabado N, Rutka JT, Bouffet E, Korbel JO, Lupien M, Aldape KD, Bader GD, Eils R, Lichter P, Dirks PB, Pfister SM, Korshunov A, Taylor MD. Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature. 2014 Feb 27; 506(7489):445-50. PMID: 24553142.
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    156. Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA. Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology. 2014 Mar 18; 82(11):963-8. PMID: 24553428.
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    157. Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op 't Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, DeSocio JE, Hilliard CE, O'Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM. A genome-wide association study of anorexia nervosa. Mol Psychiatry. 2014 Oct; 19(10):1085-94. PMID: 24514567.
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    158. Shih DJ, Northcott PA, Remke M, Korshunov A, Ramaswamy V, Kool M, Luu B, Yao Y, Wang X, Dubuc AM, Garzia L, Peacock J, Mack SC, Wu X, Rolider A, Morrissy AS, Cavalli FM, Jones DT, Zitterbart K, Faria CC, Schüller U, Kren L, Kumabe T, Tominaga T, Shin Ra Y, Garami M, Hauser P, Chan JA, Robinson S, Bognár L, Klekner A, Saad AG, Liau LM, Albrecht S, Fontebasso A, Cinalli G, De Antonellis P, Zollo M, Cooper MK, Thompson RC, Bailey S, Lindsey JC, Di Rocco C, Massimi L, Michiels EM, Scherer SW, Phillips JJ, Gupta N, Fan X, Muraszko KM, Vibhakar R, Eberhart CG, Fouladi M, Lach B, Jung S, Wechsler-Reya RJ, Fèvre-Montange M, Jouvet A, Jabado N, Pollack IF, Weiss WA, Lee JY, Cho BK, Kim SK, Wang KC, Leonard JR, Rubin JB, de Torres C, Lavarino C, Mora J, Cho YJ, Tabori U, Olson JM, Gajjar A, Packer RJ, Rutkowski S, Pomeroy SL, French PJ, Kloosterhof NK, Kros JM, Van Meir EG, Clifford SC, Bourdeaut F, Delattre O, Doz FF, Hawkins CE, Malkin D, Grajkowska WA, Perek-Polnik M, Bouffet E, Rutka JT, Pfister SM, Taylor MD. Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol. 2014 Mar 20; 32(9):886-96. PMID: 24493713.
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    159. Yuen RK, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, Marshall CR, Jarvi KA, Kolomietz E, Scherer SW. Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis. Fertil Steril. 2014 Apr; 101(4):1079-1085.e3. PMID: 24462061.
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    160. Anagnostou E, Zwaigenbaum L, Szatmari P, Fombonne E, Fernandez BA, Woodbury-Smith M, Brian J, Bryson S, Smith IM, Drmic I, Buchanan JA, Roberts W, Scherer SW. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014 Apr 15; 186(7):509-19. PMID: 24418986.
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    161. Pang AW, Macdonald JR, Yuen RK, Hayes VM, Scherer SW. Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum. G3 (Bethesda). 2014 Jan 10; 4(1):63-5. PMID: 24192839.
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    162. Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet. 2014 May 15; 23(10):2752-68. PMID: 24381304.
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    163. Al-Maawali A, Marshall CR, Scherer SW, Dupuis L, Mendoza-Londono R, Stavropoulos DJ. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. Am J Med Genet A. 2014 Mar; 164A(3):796-800. PMID: 24375972.
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    164. Oei L, Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Kruk M, Lewis JR, Patel MS, Scollen S, Svensson O, Trompet S, van Schoor NM, Zhu K, Buckley BM, Cooper C, Ford I, Goltzman D, González-Macías J, Langdahl BL, Leslie WD, Lips P, Lorenc RS, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Slagboom PE, Garcia-Ibarbia C, Ingvarsson T, Johannsdottir H, Luben R, Medina-Gómez C, Arp P, Nandakumar K, Palsson ST, Sigurdsson G, van Meurs JB, Zhou Y, Hofman A, Jukema JW, Pols HA, Prince RL, Cupples LA, Marshall CR, Pinto D, Sato D, Scherer SW, Reeve J, Thorsteinsdottir U, Karasik D, Richards JB, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F, Estrada K. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. J Med Genet. 2014 Feb; 51(2):122-31. PMID: 24343915.
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    165. MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2014 Jan; 42(Database issue):D986-92. PMID: 24174537.
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    166. Boonyawat B, Dhanraj S, Al Abbas F, Zlateska B, Grunenbaum E, Roifman CM, Steele L, Meyn S, Blanchette V, Scherer SW, Swierczek S, Prchal J, Zhu Q, Torgerson TR, Ochs HD, Dror Y. Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia. J Clin Immunol. 2013 Oct; 33(7):1150-5. PMID: 23943155.
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    169. Szego MJ, Buchanan JA, Scherer SW. Building trust in 21st century genomics. G3 (Bethesda). 2013 Aug 07; 3(8):1209-11. PMID: 23926223.
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    170. Walker S, Scherer SW. Identification of candidate intergenic risk loci in autism spectrum disorder. BMC Genomics. 2013 Jul 24; 14:499. PMID: 23879678.
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    171. Ghahramani Seno MM, Gwadry FG, Hu P, Scherer SW. Neuregulin 1-alpha regulates phosphorylation, acetylation, and alternative splicing in lymphoblastoid cells. Genome. 2013 Oct; 56(10):619-25. PMID: 24237343.
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    172. Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013 Aug 08; 93(2):249-63. PMID: 23849776.
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    173. Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM. TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. Hum Genet. 2013 Nov; 132(11):1245-52. PMID: 23812740.
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    174. Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet. 2013 Nov 15; 22(22):4485-501. PMID: 23813976.
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    175. Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, Buxbaum JD, Pinto D, Marshall CR, Lionel AC, Scherer SW, Webber C. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet. 2013 Jun; 9(6):e1003523. PMID: 23754953.
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    176. Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ. HGV2012: leveraging next-generation technology and large datasets to advance disease research. Hum Mutat. 2013 Apr; 34(4):657-60. PMID: 23315969.
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    177. Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord. 2013 Mar; 43(3):556-68. PMID: 22782649.
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    178. Carter MT, Scherer SW. Autism spectrum disorder in the genetics clinic: a review. Clin Genet. 2013 May; 83(5):399-407. PMID: 23425232.
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    179. Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet. 2013 May 15; 22(10):2055-66. PMID: 23393157.
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    180. Tran TH, Unterrainer C, Fiedler G, Döhler B, Scherer S, Ruhenstroth A, Adamek M, Middleton D, Opelz G. No impact of KIR-ligand mismatch on allograft outcome in HLA-compatible kidney transplantation. Am J Transplant. 2013 Apr; 13(4):1063-1068. PMID: 23398855.
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    181. Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE, Weksberg R. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med Genomics. 2013 Jan 28; 6:1. PMID: 23356856.
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    182. Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. J Med Genet. 2013 Mar; 50(3):163-73. PMID: 23335808.
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    183. Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 07; 92(2):210-20. PMID: 23332918.
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    184. Dhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Loh ML, Chetty R, Wei AC, Dror Y. Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2013 May; 60(5):754-60. PMID: 23303473.
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    185. Kirkness EF, Grindberg RV, Yee-Greenbaum J, Marshall CR, Scherer SW, Lasken RS, Venter JC. Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Res. 2013 May; 23(5):826-32. PMID: 23282328.
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    186. Costain G, Esplen MJ, Toner B, Scherer SW, Meschino WS, Hodgkinson KA, Bassett AS. Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophr Bull. 2014 Jan; 40(1):78-87. PMID: 23236078.
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    187. Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46. PMID: 23044507.
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    188. Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D, Rickaby J, Lu C, Szatmari P, Roberts W, Fernandez BA, Marshall CR, Hatchwell E, Eis PS, Scherer SW. A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda). 2012 Dec; 2(12):1665-85. PMID: 23275889.
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    189. Fernandez BA, Green JS, Bursey F, Barrett B, MacMillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet. 2012 Nov 21; 13:111. PMID: 23171239.
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    190. Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW. Mechanisms of formation of structural variation in a fully sequenced human genome. Hum Mutat. 2013 Feb; 34(2):345-54. PMID: 23086744.
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    191. Scherer SW. Genomics is the medium for 21st century biology. Genome. 2012 Oct; 55(10):v. PMID: 23186029.
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    192. Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. 1q21.1 Microduplication expression in adults. Genet Med. 2013 Apr; 15(4):282-9. PMID: 23018752.
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    193. Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet. 2012 Sep; 8(9):e1002903. PMID: 22969434.
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    194. Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA. Early-onset Lafora body disease. Brain. 2012 Sep; 135(Pt 9):2684-98. PMID: 22961547.
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    195. Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA. Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy. Pediatr Neurol. 2012 Sep; 47(3):205-8. PMID: 22883287.
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    196. Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet. 2012; 8(8):e1002843. PMID: 22912587.
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    197. Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, Dubuc A, Yao Y, Ramaswamy V, Luu B, Rolider A, Cavalli FM, Wang X, Remke M, Wu X, Chiu RY, Chu A, Chuah E, Corbett RD, Hoad GR, Jackman SD, Li Y, Lo A, Mungall KL, Nip KM, Qian JQ, Raymond AG, Thiessen NT, Varhol RJ, Birol I, Moore RA, Mungall AJ, Holt R, Kawauchi D, Roussel MF, Kool M, Jones DT, Witt H, Fernandez-L A, Kenney AM, Wechsler-Reya RJ, Dirks P, Aviv T, Grajkowska WA, Perek-Polnik M, Haberler CC, Delattre O, Reynaud SS, Doz FF, Pernet-Fattet SS, Cho BK, Kim SK, Wang KC, Scheurlen W, Eberhart CG, Fèvre-Montange M, Jouvet A, Pollack IF, Fan X, Muraszko KM, Gillespie GY, Di Rocco C, Massimi L, Michiels EM, Kloosterhof NK, French PJ, Kros JM, Olson JM, Ellenbogen RG, Zitterbart K, Kren L, Thompson RC, Cooper MK, Lach B, McLendon RE, Bigner DD, Fontebasso A, Albrecht S, Jabado N, Lindsey JC, Bailey S, Gupta N, Weiss WA, Bognár L, Klekner A, Van Meter TE, Kumabe T, Tominaga T, Elbabaa SK, Leonard JR, Rubin JB, Liau LM, Van Meir EG, Fouladi M, Nakamura H, Cinalli G, Garami M, Hauser P, Saad AG, Iolascon A, Jung S, Carlotti CG, Vibhakar R, Ra YS, Robinson S, Zollo M, Faria CC, Chan JA, Levy ML, Sorensen PH, Meyerson M, Pomeroy SL, Cho YJ, Bader GD, Tabori U, Hawkins CE, Bouffet E, Scherer SW, Rutka JT, Malkin D, Clifford SC, Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 2012 Aug 02; 488(7409):49-56. PMID: 22832581.
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    198. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet. 2012 Nov 01; 21(21):4781-92. PMID: 22843504.
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    199. Al-Sukhni W, Joe S, Lionel AC, Zwingerman N, Zogopoulos G, Marshall CR, Borgida A, Holter S, Gropper A, Moore S, Bondy M, Klein AP, Petersen GM, Rabe KG, Schwartz AG, Syngal S, Scherer SW, Gallinger S. Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet. 2012 Sep; 131(9):1481-94. PMID: 22665139.
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    200. Tang CS, Cheng G, So MT, Yip BH, Miao XP, Wong EH, Ngan ES, Lui VC, Song YQ, Chan D, Cheung K, Yuan ZW, Lei L, Chung PH, Liu XL, Wong KK, Marshall CR, Scherer SW, Scherer S, Cherny SS, Sham PC, Tam PK, Garcia-Barceló MM. Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. PLoS Genet. 2012; 8(5):e1002687. PMID: 22589734.
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    201. Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81. PMID: 22566635.
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    203. Devlin B, Scherer SW. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev. 2012 Jun; 22(3):229-37. PMID: 22463983.
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    204. Dubuc AM, Morrissy AS, Kloosterhof NK, Northcott PA, Yu EP, Shih D, Peacock J, Grajkowska W, van Meter T, Eberhart CG, Pfister S, Marra MA, Weiss WA, Scherer SW, Rutka JT, French PJ, Taylor MD. Subgroup-specific alternative splicing in medulloblastoma. Acta Neuropathol. 2012 Apr; 123(4):485-499. PMID: 22358458.
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    205. Wu X, Northcott PA, Dubuc A, Dupuy AJ, Shih DJ, Witt H, Croul S, Bouffet E, Fults DW, Eberhart CG, Garzia L, Van Meter T, Zagzag D, Jabado N, Schwartzentruber J, Majewski J, Scheetz TE, Pfister SM, Korshunov A, Li XN, Scherer SW, Cho YJ, Akagi K, MacDonald TJ, Koster J, McCabe MG, Sarver AL, Collins VP, Weiss WA, Largaespada DA, Collier LS, Taylor MD. Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature. 2012 Feb 15; 482(7386):529-33. PMID: 22343890.
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    217. Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Eur J Med Genet. 2011 Sep-Oct; 54(5):e516-20. PMID: 21689796.
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    219. Nishiyama T, Takahashi K, Tango T, Pinto D, Scherer SW, Takami S, Kishino H. A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data. BMC Bioinformatics. 2011 May 26; 12:205. PMID: 21612662.
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    220. Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol. 2011 May 08; 29(6):512-20. PMID: 21552272.
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    221. Ghahramani Seno MM, Kwan BY, Lee-Ng KK, Moessner R, Lionel AC, Marshall CR, Scherer SW. Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. BMC Med Genet. 2011 Mar 26; 12:45. PMID: 21439084.
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    222. Joseph-George AM, He Y, Marshall CR, Wong RC, MacDonald JR, Fahey CA, Chitayat D, Chun K, Ryan G, Summers AM, Winsor EJ, Scherer SW. Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions. J Med Genet. 2011 May; 48(5):317-22. PMID: 21429932.
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    223. Zwaigenbaum L, Scherer S, Szatmari P, Fombonne E, Bryson SE, Hyde K, Anagnostou E, Anognostou E, Brian J, Evans A, Hall G, Nicholas D, Roberts W, Smith I, Vaillancourt T, Volden J. The NeuroDevNet Autism Spectrum Disorders Demonstration Project. Semin Pediatr Neurol. 2011 Mar; 18(1):40-8. PMID: 21575840.
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    224. Pagnamenta AT, Holt R, Yusuf M, Pinto D, Wing K, Betancur C, Scherer SW, Volpi EV, Monaco AP. A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. J Neurodev Disord. 2011 Jun; 3(2):124-31. PMID: 21484199.
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    225. Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, Ferreira JC, Pinto D, Scherer SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS, Weksberg R. A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Res. 2011 Mar; 21(3):465-76. PMID: 21324877.
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    226. Venkateswaran S, Zheng K, Sacchetti M, Gagne D, Arnold DL, Sadovnick AD, Scherer SW, Banwell B, Bar-Or A, Simon DK. Mitochondrial DNA haplogroups and mutations in children with acquired central demyelination. Neurology. 2011 Mar 01; 76(9):774-80. PMID: 21288980.
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    227. Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. Am J Med Genet A. 2011 Feb; 155A(2):424-9. PMID: 21271666.
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    228. Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW. A genotype resource for postmortem brain samples from the Autism Tissue Program. Autism Res. 2011 Apr; 4(2):89-97. PMID: 21254448.
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    229. Vieland VJ, Hallmayer J, Huang Y, Pagnamenta AT, Pinto D, Khan H, Monaco AP, Paterson AD, Scherer SW, Sutcliffe JS, Szatmari P. Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. J Neurodev Disord. 2011 Jun; 3(2):113-23. PMID: 21484201.
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    230. Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin Genet. 2011 Nov; 80(5):435-43. PMID: 21114665.
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    231. Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin-ud-Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. Clin Genet. 2010 Nov; 78(5):478-83. PMID: 20345473.
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    233. Church DM, Lappalainen I, Sneddon TP, Hinton J, Maguire M, Lopez J, Garner J, Paschall J, DiCuccio M, Yaschenko E, Scherer SW, Feuk L, Flicek P. Public data archives for genomic structural variation. Nat Genet. 2010 Oct; 42(10):813-4. PMID: 20877315.
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    236. Bigham A, Bauchet M, Pinto D, Mao X, Akey JM, Mei R, Scherer SW, Julian CG, Wilson MJ, López Herráez D, Brutsaert T, Parra EJ, Moore LG, Shriver MD. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet. 2010 Sep 09; 6(9):e1001116. PMID: 20838600.
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    238. Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ. HGV2009 meeting: bigger and better studies provide more answers and more questions. Hum Mutat. 2010 Jul; 31(7):886-8. PMID: 20506253.
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    240. Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW. Towards a comprehensive structural variation map of an individual human genome. Genome Biol. 2010; 11(5):R52. PMID: 20482838.
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    241. Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010 Jun; 42(6):489-91. PMID: 20473310.
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    242. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14; 86(5):749-64. PMID: 20466091.
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    247. Grafodatskaya D, Choufani S, Ferreira JC, Butcher DT, Lou Y, Zhao C, Scherer SW, Weksberg R. EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics. 2010 Feb; 95(2):73-83. PMID: 20005943.
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    248. Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr; 18(4):429-35. PMID: 19920853.
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    249. Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A. 2009 Nov; 149A(11):2415-23. PMID: 19876907.
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    250. Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Origins and functional impact of copy number variation in the human genome. Nature. 2010 Apr 01; 464(7289):704-12. PMID: 19812545.
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    251. Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW. Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res. 2009 Oct; 66(4):357-63. PMID: 19531980.
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    252. Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010 Mar; 47(3):195-203. PMID: 19755429.
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    253. Birney E, Hudson TJ, Green ED, Gunter C, Eddy S, Rogers J, Harris JR, Ehrlich SD, Apweiler R, Austin CP, Berglund L, Bobrow M, Bountra C, Brookes AJ, Cambon-Thomsen A, Carter NP, Chisholm RL, Contreras JL, Cooke RM, Crosby WL, Dewar K, Durbin R, Dyke SO, Ecker JR, El Emam K, Feuk L, Gabriel SB, Gallacher J, Gelbart WM, Granell A, Guarner F, Hubbard T, Jackson SA, Jennings JL, Joly Y, Jones SM, Kaye J, Kennedy KL, Knoppers BM, Kyrpides NC, Lowrance WW, Luo J, MacKay JJ, Martín-Rivera L, McCombie WR, McPherson JD, Miller L, Miller W, Moerman D, Mooser V, Morton CC, Ostell JM, Ouellette BF, Parkhill J, Raina PS, Rawlings C, Scherer SE, Scherer SW, Schofield PN, Sensen CW, Stodden VC, Sussman MR, Tanaka T, Thornton J, Tsunoda T, Valle D, Vuorio EI, Walker NM, Wallace S, Weinstock G, Whitman WB, Worley KC, Wu C, Wu J, Yu J. Prepublication data sharing. Nature. 2009 Sep 10; 461(7261):168-70. PMID: 19741685.
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    254. Vincent JB, Noor A, Windpassinger C, Gianakopoulos PJ, Schwarzbraun T, Alfred SE, Stachowiak B, Scherer SW, Roberts W, Wagner K, Kroisel PM, Petek E. Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 05; 150B(6):817-26. PMID: 19086034.
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    255. Carson AR, Scherer SW. Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years. BMC Evol Biol. 2009 Jul 07; 9:156. PMID: 19583854.
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    256. Brookes AJ, Chanock SJ, Hudson TJ, Peltonen L, Abecasis G, Kwok PY, Scherer SW. Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008. Hum Mutat. 2009 Jul; 30(7):1134-8. PMID: 19384970.
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    257. Noor A, Gianakopoulos PJ, Fernandez B, Marshall CR, Szatmari P, Roberts W, Scherer SW, Vincent JB. Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Psychiatr Genet. 2009 Jun; 19(3):154-5. PMID: 19339915.
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    258. Tran TH, Middleton D, Döhler B, Scherer S, Meenagh A, Sleator C, Opelz G. Reassessing the impact of donor HLA-C genotype on long-term liver transplant survival. Am J Transplant. 2009 Jul; 9(7):1674-8. PMID: 19392983.
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    259. Goobie S, Knijnenburg J, Fitzpatrick D, Sharkey FH, Lionel AC, Marshall CR, Azam T, Shago M, Chong K, Mendoza-Londono R, den Hollander NS, Ruivenkamp C, Maher E, Tanke HJ, Szuhai K, Wintle RF, Scherer SW. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res. 2008; 123(1-4):65-78. PMID: 19287140.
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    260. Northcott PA, Nakahara Y, Wu X, Feuk L, Ellison DW, Croul S, Mack S, Kongkham PN, Peacock J, Dubuc A, Ra YS, Zilberberg K, McLeod J, Scherer SW, Sunil Rao J, Eberhart CG, Grajkowska W, Gillespie Y, Lach B, Grundy R, Pollack IF, Hamilton RL, Van Meter T, Carlotti CG, Boop F, Bigner D, Gilbertson RJ, Rutka JT, Taylor MD. Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nat Genet. 2009 Apr; 41(4):465-72. PMID: 19270706.
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    261. Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2):e4582. PMID: 19242545.
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    262. Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, Scherer SW. The cycle of genome-directed medicine. Genome Med. 2009 Feb 02; 1(2):16. PMID: 19341487.
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    263. Caulfield T, Fullerton SM, Ali-Khan SE, Arbour L, Burchard EG, Cooper RS, Hardy BJ, Harry S, Hyde-Lay R, Kahn J, Kittles R, Koenig BA, Lee SS, Malinowski M, Ravitsky V, Sankar P, Scherer SW, Séguin B, Shickle D, Suarez-Kurtz G, Daar AS. Race and ancestry in biomedical research: exploring the challenges. Genome Med. 2009 Jan 21; 1(1):8. PMID: 19348695.
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    264. Okamura K, Wintle RF, Scherer SW. Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting. Genome Biol. 2008; 9(11):R160. PMID: 19014519.
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    265. Cook EH, Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature. 2008 Oct 16; 455(7215):919-23. PMID: 18923514.
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    266. Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008 Dec 15; 17(24):4045-53. PMID: 18806272.
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    267. Buchanan JA, Scherer SW. Contemplating effects of genomic structural variation. Genet Med. 2008 Sep; 10(9):639-47. PMID: 18978673.
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    268. Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A. 2008 Aug 12; 105(32):11264-9. PMID: 18685109.
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    269. Parker-Katiraee L, Bousiaki E, Monk D, Moore GE, Nakabayashi K, Scherer SW. Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues. Hum Mol Genet. 2008 Nov 01; 17(21):3263-70. PMID: 18678600.
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    270. Fidler LM, Wilson GJ, Liu F, Cui X, Scherer SW, Taylor GP, Hamilton RM. Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations. J Cell Mol Med. 2009 Oct; 13(10):4219-28. PMID: 18662195.
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    271. Heinold A, Schaller-Suefling E, Opelz G, Scherer S, Tran TH. Identification of two novel HLA alleles, HLA-A*02010103 and HLA-B*4455, and characterization of the complete genomic sequence of HLA-A*290201. Tissue Antigens. 2008 Oct; 72(4):397-400. PMID: 18647362.
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    272. Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR. The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms. Am J Med Genet A. 2008 Jul 15; 146A(14):1797-806. PMID: 18553513.
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    273. Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet. 2008 Jul; 83(1):106-11. PMID: 18565486.
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    274. Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Pewsey E, Ukadike KC, Friedman JM, Srivastava AK, Scherer SW. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psychiatr Genet. 2008 Jun; 18(3):101-9. PMID: 18496206.
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    275. Monk D, Wagschal A, Arnaud P, Müller PS, Parker-Katiraee L, Bourc'his D, Scherer SW, Feil R, Stanier P, Moore GE. Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. Genome Res. 2008 Aug; 18(8):1270-81. PMID: 18480470.
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    276. Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report. PLoS Genet. 2008 Apr 25; 4(4):e1000068. PMID: 18437244.
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    277. Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA. Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet A. 2008 Mar 01; 146A(5):636-43. PMID: 17334992.
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    278. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008 Feb; 82(2):477-88. PMID: 18252227.
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    279. Heinold A, Bauer M, Opelz G, Scherer S, Schmidt AH, Tran TH. Identification and characterization of three novel HLA alleles, HLA-A*240214, HLA-A*3215 and HLA-DQB1*060302. Tissue Antigens. 2007 Dec; 70(6):511-4. PMID: 17990990.
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    280. Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet. 2007 Dec; 81(6):1289-97. PMID: 17999366.
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    281. Pinto D, Marshall C, Feuk L, Scherer SW. Copy-number variation in control population cohorts. Hum Mol Genet. 2007 Oct 15; 16 Spec No. 2:R168-73. PMID: 17911159.
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    282. Heinold A, Bauer M, Scherer S, Opelz G, Tran TH. Characterization of a new HLA-B allele, HLA-B*5312, and re-evaluation of the published sequences of the untranslated regions of HLA-B*35 and HLA-B*53. Tissue Antigens. 2007 Oct; 70(4):319-23. PMID: 17767554.
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    283. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. The diploid genome sequence of an individual human. PLoS Biol. 2007 Sep 04; 5(10):e254. PMID: 17803354.
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    284. Zogopoulos G, Ha KC, Naqib F, Moore S, Kim H, Montpetit A, Robidoux F, Laflamme P, Cotterchio M, Greenwood C, Scherer SW, Zanke B, Hudson TJ, Bader GD, Gallinger S. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet. 2007 Nov; 122(3-4):345-53. PMID: 17638019.
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    285. Mensah AK, De Luca V, Stachowiak B, Noor A, Windpassinger C, Lam ST, Kennedy JL, Scherer SW, Lo IF, Vincent JB. Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong. Schizophr Res. 2007 Sep; 95(1-3):228-35. PMID: 17644315.
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    286. Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, Hurles ME, Feuk L. Challenges and standards in integrating surveys of structural variation. Nat Genet. 2007 Jul; 39(7 Suppl):S7-15. PMID: 17597783.
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    287. Okamura K, Wei J, Scherer SW. Evolutionary implications of inversions that have caused intra-strand parity in DNA. BMC Genomics. 2007 Jun 11; 8:160. PMID: 17562011.
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    288. Harvey CG, Menon SD, Stachowiak B, Noor A, Proctor A, Mensah AK, Mnatzakanian GN, Alfred SE, Guo R, Scherer SW, Kennedy JL, Roberts W, Srivastava AK, Srivistava AK, Minassian BA, Vincent JB. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 05; 144B(3):355-60. PMID: 17171659.
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    289. Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA. Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse. BMC Genomics. 2007 Apr 03; 8:92. PMID: 17407603.
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    290. Kwasnicka-Crawford DA, Roberts W, Scherer SW. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region. J Autism Dev Disord. 2007 Apr; 37(4):694-702. PMID: 17006779.
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    291. Parker-Katiraee L, Carson AR, Yamada T, Arnaud P, Feil R, Abu-Amero SN, Moore GE, Kaneda M, Perry GH, Stone AC, Lee C, Meguro-Horike M, Sasaki H, Kobayashi K, Nakabayashi K, Scherer SW. Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLoS Genet. 2007 May 04; 3(5):e65. PMID: 17480121.
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    292. Claudio JO, Zhan F, Zhuang L, Khaja R, Zhu YX, Sivananthan K, Trudel S, Masih-Khan E, Fonseca R, Bergsagel PL, Scherer SW, Shaughnessy J, Stewart AK. Expression and mutation status of candidate kinases in multiple myeloma. Leukemia. 2007 May; 21(5):1124-7. PMID: 17344920.
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    293. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28. PMID: 17322880.
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    294. Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007 Feb 09; 315(5813):848-53. PMID: 17289997.
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    295. Abecasis G, Tam PK, Bustamante CD, Ostrander EA, Scherer SW, Chanock SJ, Kwok PY, Brookes AJ. Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis. Nat Genet. 2007 Feb; 39(2):153-5. PMID: 17262030.
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    296. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature. 2006 Nov 23; 444(7118):444-54. PMID: 17122850.
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    297. Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L. Genome assembly comparison identifies structural variants in the human genome. Nat Genet. 2006 Dec; 38(12):1413-8. PMID: 17115057.
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    298. Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, Zhang J, Liu G, Ihara S, Nakamura H, Hurles ME, Lee C, Scherer SW, Jones KW, Shapero MH, Huang J, Aburatani H. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res. 2006 Dec; 16(12):1575-84. PMID: 17122084.
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    299. Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C, Humphray SJ, Scherer SW, Lee C, Hurles ME, Carter NP. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res. 2006 Dec; 16(12):1566-74. PMID: 17122085.
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    300. Petek E, Schwarzbraun T, Noor A, Patel M, Nakabayashi K, Choufani S, Windpassinger C, Stamenkovic M, Robertson MM, Aschauer HN, Gurling HM, Kroisel PM, Wagner K, Scherer SW, Vincent JB. Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics. 2007 Jan; 277(1):71-81. PMID: 17043892.
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    301. Kwasnicka-Crawford DA, Carson AR, Scherer SW. IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. Biochem Biophys Res Commun. 2006 Dec 01; 350(4):890-9. PMID: 17045569.
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    302. Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006 Nov; 79(5):965-72. PMID: 17033973.
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    303. Wilson MD, Cheung J, Martindale DW, Scherer SW, Koop BF. Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes. Physiol Genomics. 2006 Nov 27; 27(3):201-18. PMID: 16926269.
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    304. Andrade DM, Scherer SW, Minassian BA. Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple? Epilepsy Res. 2006 Nov; 72(1):75-9. PMID: 16930946.
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    305. Okamura K, Feuk L, Marquès-Bonet T, Navarro A, Scherer SW. Frequent appearance of novel protein-coding sequences by frameshift translation. Genomics. 2006 Dec; 88(6):690-697. PMID: 16890400.
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    306. Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C. Copy number variation: new insights in genome diversity. Genome Res. 2006 Aug; 16(8):949-61. PMID: 16809666.
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    307. Carson AR, Feuk L, Mohammed M, Scherer SW. Strategies for the detection of copy number and other structural variants in the human genome. Hum Genomics. 2006 Jun; 2(6):403-14. PMID: 16848978.
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    308. Perry GH, Tchinda J, McGrath SD, Zhang J, Picker SR, Cáceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, Stone AC, Lee C. Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A. 2006 May 23; 103(21):8006-11. PMID: 16702545.
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    309. Feuk L, Marshall CR, Wintle RF, Scherer SW. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet. 2006 Apr 15; 15 Spec No 1:R57-66. PMID: 16651370.
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    310. Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster. J Med Genet. 2006 May; 43(5):429-34. PMID: 16556609.
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    311. Carson AR, Cheung J, Scherer SW. Duplication and relocation of the functional DPY19L2 gene within low copy repeats. BMC Genomics. 2006 Mar 09; 7:45. PMID: 16526957.
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    312. Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A. 2006 Mar 01; 140(5):509-14. PMID: 16470794.
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    313. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006 Feb; 7(2):85-97. PMID: 16418744.
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    314. Lohi H, Chan EM, Scherer SW, Minassian BA. On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies. Adv Neurol. 2006; 97:399-415. PMID: 16383151.
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    315. Khaja R, MacDonald JR, Zhang J, Scherer SW. Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes. Methods Mol Biol. 2006; 338:9-20. PMID: 16888347.
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    316. Osborne LR, Joseph-George AM, Scherer SW. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods Mol Med. 2006; 126:113-28. PMID: 16930009.
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    317. Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res. 2006; 115(3-4):205-14. PMID: 17124402.
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    318. Schwarzbraun T, Windpassinger C, Ofner L, Vincent JB, Cheung J, Scherer SW, Wagner K, Kroisel PM, Petek E. Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). Eur J Med Genet. 2006 Jul-Aug; 49(4):338-45. PMID: 16829355.
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    319. Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW. Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies. PLoS Genet. 2005 Oct; 1(4):e56. PMID: 16254605.
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    320. Garcia-Barceló M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem. 2006 Jan; 52(1):46-52. PMID: 16254195.
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    321. Armengol L, Marquès-Bonet T, Cheung J, Khaja R, González JR, Scherer SW, Navarro A, Estivill X. Murine segmental duplications are hot spots for chromosome and gene evolution. Genomics. 2005 Dec; 86(6):692-700. PMID: 16256303.
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    322. Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20; 353(16):1694-701. PMID: 16236740.
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    323. Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes. Hum Mutat. 2005 Oct; 26(4):397. PMID: 16134145.
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    324. Fernandez BA, Siegel-Bartelt J, Herbrick JA, Teshima I, Scherer SW. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. Clin Genet. 2005 Oct; 68(4):349-59. PMID: 16143022.
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    325. Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA. Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy. Hum Mol Genet. 2005 Sep 15; 14(18):2727-36. PMID: 16115820.
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    326. Czachurski D, Scollo A, Skambraks A, Perichon AM, Scherer S, Tran TH, Opelz G, Grappiolo I, Mytilineos J. Description and characterization of two new HLA alleles, B*4051 and DRB1*1364, identified by sequence-based typing. Tissue Antigens. 2005 Aug; 66(2):151-5. PMID: 16029439.
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    327. Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnström K, Järvelä I, Scherer SW. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics. 2005 Aug; 86(2):182-94. PMID: 15925480.
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    328. Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children. Hum Genet. 2005 Aug; 117(4):383-8. PMID: 15933846.
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    329. Eppert K, Wunder JS, Aneliunas V, Tsui LC, Scherer SW, Andrulis IL. Altered expression and deletion of RMO1 in osteosarcoma. Int J Cancer. 2005 May 01; 114(5):738-46. PMID: 15609301.
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    330. Boright AP, Paterson AD, Mirea L, Bull SB, Mowjoodi A, Scherer SW, Zinman B. Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study. Diabetes. 2005 Apr; 54(4):1238-44. PMID: 15793268.
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    331. Yamada T, Carson AR, Caniggia I, Umebayashi K, Yoshimori T, Nakabayashi K, Scherer SW. Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast. J Biol Chem. 2005 May 06; 280(18):18283-90. PMID: 15755735.
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    332. Nakabayashi K, Amann D, Ren Y, Saarialho-Kere U, Avidan N, Gentles S, MacDonald JR, Puffenberger EG, Christiano AM, Martinez-Mir A, Salas-Alanis JC, Rizzo R, Vamos E, Raams A, Les C, Seboun E, Jaspers NG, Beckmann JS, Jackson CE, Scherer SW. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar; 76(3):510-6. PMID: 15645389.
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    333. Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA. Expanded repeat in canine epilepsy. Science. 2005 Jan 07; 307(5706):81. PMID: 15637270.
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    334. Minagawa S, Nakabayashi K, Fujii M, Scherer SW, Ayusawa D. Early BrdU-responsive genes constitute a novel class of senescence-associated genes in human cells. Exp Cell Res. 2005 Apr 01; 304(2):552-8. PMID: 15748899.
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    335. Scherer SW, Green ED. Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome. Hum Mol Genet. 2004 Oct 01; 13 Spec No 2:R303-13. PMID: 15358738.
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    336. Czachurski D, Scherer S, Gehrke S, Laux G, Opelz G, Mytilineos J. Identification of two new HLA alleles: B*3546* and B*5611*. How reliable are the published HLA-B intron 2 sequences? Tissue Antigens. 2004 Oct; 64(4):500-5. PMID: 15361129.
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    337. Kroisel PM, Windpassinger C, Wagner K, Petek E, Vincent JB, Scherer SW, Spiel G, Artner V, Valtiner E. De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. Am J Med Genet A. 2004 Aug 15; 129A(1):98-100. PMID: 15266626.
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    338. Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW. Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15; 129B(1):82-4. PMID: 15274046.
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    339. Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology. 2004 Aug 10; 63(3):565-7. PMID: 15304597.
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    340. Nakabayashi K, Makino S, Minagawa S, Smith AC, Bamforth JS, Stanier P, Preece M, Parker-Katiraee L, Paton T, Oshimura M, Mill P, Yoshikawa Y, Hui CC, Monk D, Moore GE, Scherer SW. Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues. J Med Genet. 2004 Aug; 41(8):601-8. PMID: 15286155.
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    341. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet. 2004 Sep; 36(9):949-51. PMID: 15286789.
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    342. Robb GB, Carson AR, Tai SC, Fish JE, Singh S, Yamada T, Scherer SW, Nakabayashi K, Marsden PA. Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript. J Biol Chem. 2004 Sep 03; 279(36):37982-96. PMID: 15234981.
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    343. Minagawa S, Nakabayashi K, Fujii M, Scherer SW, Ayusawa D. Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells. Exp Gerontol. 2004 Jul; 39(7):1069-78. PMID: 15236766.
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    344. Taylor MD, Zhang X, Liu L, Hui CC, Mainprize TG, Scherer SW, Wainwright B, Hogg D, Rutka JT. Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signaling. Oncogene. 2004 Jun 03; 23(26):4577-83. PMID: 15077159.
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    345. Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Hum Mol Genet. 2004 Jun 01; 13(11):1117-29. PMID: 15102711.
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    346. Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet. 2004 Apr; 36(4):339-41. PMID: 15034579.
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    347. Vincent JB, Thevarkunnel S, Kolozsvari D, Paterson AD, Roberts W, Scherer SW. Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15; 125B(1):54-6. PMID: 14755444.
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    348. Liu X, Li X, Li M, Acimovic YJ, Li Z, Scherer SW, Estivill X, Tsui LC. Characterization of the segmental duplication LCR7-20 in the human genome. Genomics. 2004 Feb; 83(2):262-9. PMID: 14706455.
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    349. Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA. Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. Hum Mutat. 2004 Feb; 23(2):170-6. PMID: 14722920.
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    350. Haddad R, Vincent JB, Gryfe R, Kim H, Wen J, Redston M, Scherer SW, Gallinger S. Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer. Cancer Lett. 2004 Jan 08; 203(1):87-90. PMID: 14670621.
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    351. Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA. Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. Neurology. 2003 Dec 09; 61(11):1611-4. PMID: 14663053.
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    352. Zlotorynski E, Rahat A, Skaug J, Ben-Porat N, Ozeri E, Hershberg R, Levi A, Scherer SW, Margalit H, Kerem B. Molecular basis for expression of common and rare fragile sites. Mol Cell Biol. 2003 Oct; 23(20):7143-51. PMID: 14517285.
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    353. Tosi S, Hughes J, Scherer SW, Nakabayashi K, Harbott J, Haas OA, Cazzaniga G, Biondi A, Kempski H, Kearney L. Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia. Genes Chromosomes Cancer. 2003 Oct; 38(2):191-200. PMID: 12939747.
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    354. Fadiel A, Lithwick S, Ganji G, Scherer SW. Remarkable sequence signatures in archaeal genomes. Archaea. 2003 Oct; 1(3):185-90. PMID: 15803664.
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    355. Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Mutations in NHLRC1 cause progressive myoclonus epilepsy. Nat Genet. 2003 Oct; 35(2):125-7. PMID: 12958597.
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    356. Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22. J Med Genet. 2003 Sep; 40(9):671-5. PMID: 12960212.
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    357. Cheung J, Wilson MD, Zhang J, Khaja R, MacDonald JR, Heng HH, Koop BF, Scherer SW. Recent segmental and gene duplications in the mouse genome. Genome Biol. 2003; 4(8):R47. PMID: 12914656.
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    358. Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements. Hum Mol Genet. 2003 Sep 01; 12(17):2201-8. PMID: 12915466.
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    359. Hudek AK, Cheung J, Boright AP, Scherer SW. Genescript: DNA sequence annotation pipeline. Bioinformatics. 2003 Jun 12; 19(9):1177-8. PMID: 12801881.
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    360. Ianzano L, Zhao XC, Minassian BA, Scherer SW. Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product. Genomics. 2003 Jun; 81(6):579-87. PMID: 12782127.
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    361. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72. PMID: 12690205.
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    362. Rossant J, Scherer SW. The mouse genome sequence--the end of the tail, or just the beginning? Genome Biol. 2003; 4(4):109. PMID: 12702199.
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    363. Bentley L, Nakabayashi K, Monk D, Beechey C, Peters J, Birjandi Z, Khayat FE, Patel M, Preece MA, Stanier P, Scherer SW, Moore GE. The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. J Med Genet. 2003 Apr; 40(4):249-56. PMID: 12676894.
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    364. Cheung J, Estivill X, Khaja R, MacDonald JR, Lau K, Tsui LC, Scherer SW. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol. 2003; 4(4):R25. PMID: 12702206.
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    365. Cisternas FA, Vincent JB, Scherer SW, Ray PN. Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. Genomics. 2003 Mar; 81(3):279-91. PMID: 12659812.
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    366. Petek E, Windpassinger C, Mach M, Rauter L, Scherer SW, Wagner K, Kroisel PM. Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus. Am J Med Genet A. 2003 Mar 01; 117A(2):122-6. PMID: 12567408.
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    367. Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood. 2003 Jun 01; 101(11):4301-4. PMID: 12586620.
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    368. Lamhonwah AM, Skaug J, Scherer SW, Tein I. A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). Biochem Biophys Res Commun. 2003 Jan 31; 301(1):98-101. PMID: 12535646.
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    369. Boright AP, Kere JA, Scherer SW. Genomics and pediatric research. Pediatr Res. 2003 Jan; 53(1):4-9. PMID: 12508074.
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    370. van Biljon W, Wykes S, Scherer S, Krawetz SA, Hapgood J. Type II gonadotropin-releasing hormone receptor transcripts in human sperm. Biol Reprod. 2002 Dec; 67(6):1741-9. PMID: 12444048.
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    371. Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW. The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system. Genomics. 2002 Sep; 80(3):283-94. PMID: 12213198.
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    372. Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Hum Mol Genet. 2002 Aug 15; 11(17):1987-95. PMID: 12165560.
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    373. Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet. 2002 Jul 15; 11(15):1743-56. PMID: 12095916.
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    374. Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D. Mutations in SUFU predispose to medulloblastoma. Nat Genet. 2002 Jul; 31(3):306-10. PMID: 12068298.
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    375. Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Genetic analysis of patients with the Saethre-Chotzen phenotype. Am J Med Genet. 2002 Jun 15; 110(2):136-43. PMID: 12116251.
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    376. Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A. 2002 May 28; 99(11):7548-53. PMID: 12032320.
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    377. Hellman A, Zlotorynski E, Scherer SW, Cheung J, Vincent JB, Smith DI, Trakhtenbrot L, Kerem B. A role for common fragile site induction in amplification of human oncogenes. Cancer Cell. 2002 Feb; 1(1):89-97. PMID: 12086891.
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    378. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 2002 Feb; 79(2):186-96. PMID: 11829489.
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    379. Carnio MC, Stachelhaus T, Francis KP, Scherer S. Pyridinyl polythiazole class peptide antibiotic micrococcin P1, secreted by foodborne Staphylococcus equorum WS2733, is biosynthesized nonribosomally. Eur J Biochem. 2001 Dec; 268(24):6390-401. PMID: 11737193.
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    380. Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet. 2001 Nov; 29(3):321-5. PMID: 11685205.
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    381. Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics. 2001 Nov; 78(1-2):7-11. PMID: 11707066.
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    382. Scherer SW, Cheung J. Discovery of the human genome sequence in the public and private databases. Curr Biol. 2001 Oct 16; 11(20):R808-11. PMID: 11676931.
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    383. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet. 2001 Oct; 29(2):166-73. PMID: 11586298.
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    384. Yoon DS, Li L, Zhang RD, Kram A, Ro JY, Johnston D, Grossman HB, Scherer S, Czerniak B. Genetic mapping and DNA sequence-based analysis of deleted regions on chromosome 16 involved in progression of bladder cancer from occult preneoplastic conditions to invasive disease. Oncogene. 2001 Aug 16; 20(36):5005-14. PMID: 11526485.
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    385. Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet. 2001 Jul; 28(3):220-1. PMID: 11431691.
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    386. Kram A, Li L, Zhang RD, Yoon DS, Ro JY, Johnston D, Grossman HB, Scherer S, Czerniak B. Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression. Lab Invest. 2001 Jul; 81(7):1039-48. PMID: 11454992.
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    387. Hannula K, Lipsanen-Nyman M, Scherer SW, Holmberg C, Höglund P, Kere J. Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics. 2001 Apr 01; 73(1):1-9. PMID: 11352560.
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    388. Nakabayashi K, Scherer SW. The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35. Genomics. 2001 Apr 01; 73(1):108-12. PMID: 11352571.
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    389. Fröhling S, Nakabayashi K, Scherer SW, Döhner H, Döhner K. Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22. Hum Genet. 2001 Apr; 108(4):304-9. PMID: 11379876.
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    390. Wilson MD, Riemer C, Martindale DW, Schnupf P, Boright AP, Cheung TL, Hardy DM, Schwartz S, Scherer SW, Tsui LC, Miller W, Koop BF. Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. Nucleic Acids Res. 2001 Mar 15; 29(6):1352-65. PMID: 11239002.
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    391. Tzung KW, Williams RM, Scherer S, Federspiel N, Jones T, Hansen N, Bivolarevic V, Huizar L, Komp C, Surzycki R, Tamse R, Davis RW, Agabian N. Genomic evidence for a complete sexual cycle in Candida albicans. Proc Natl Acad Sci U S A. 2001 Mar 13; 98(6):3249-53. PMID: 11248064.
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    392. Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K. Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome. Am J Hum Genet. 2001 Apr; 68(4):848-58. PMID: 11254443.
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    393. Wong CG, Scherer SW, Snead OC, Hampson DR. Localization of the human mGluR4 gene within an epilepsy susceptibility locus(1). Brain Res Mol Brain Res. 2001 Feb 19; 87(1):109-16. PMID: 11223165.
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    394. Shoemaker DD, Schadt EE, Armour CD, He YD, Garrett-Engele P, McDonagh PD, Loerch PM, Leonardson A, Lum PY, Cavet G, Wu LF, Altschuler SJ, Edwards S, King J, Tsang JS, Schimmack G, Schelter JM, Koch J, Ziman M, Marton MJ, Li B, Cundiff P, Ward T, Castle J, Krolewski M, Meyer MR, Mao M, Burchard J, Kidd MJ, Dai H, Phillips JW, Linsley PS, Stoughton R, Scherer S, Boguski MS. Experimental annotation of the human genome using microarray technology. Nature. 2001 Feb 15; 409(6822):922-7. PMID: 11237012.
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    395. McPherson JD, Marra M, Hillier L, Waterston RH, Chinwalla A, Wallis J, Sekhon M, Wylie K, Mardis ER, Wilson RK, Fulton R, Kucaba TA, Wagner-McPherson C, Barbazuk WB, Gregory SG, Humphray SJ, French L, Evans RS, Bethel G, Whittaker A, Holden JL, McCann OT, Dunham A, Soderlund C, Scott CE, Bentley DR, Schuler G, Chen HC, Jang W, Green ED, Idol JR, Maduro VV, Montgomery KT, Lee E, Miller A, Emerling S, Gibbs R, Scherer S, Gorrell JH, Sodergren E, Clerc-Blankenburg K, Tabor P, Naylor S, Garcia D, de Jong PJ, Catanese JJ, Nowak N, Osoegawa K, Qin S, Rowen L, Madan A, Dors M, Hood L, Trask B, Friedman C, Massa H, Cheung VG, Kirsch IR, Reid T, Yonescu R, Weissenbach J, Bruls T, Heilig R, Branscomb E, Olsen A, Doggett N, Cheng JF, Hawkins T, Myers RM, Shang J, Ramirez L, Schmutz J, Velasquez O, Dixon K, Stone NE, Cox DR, Haussler D, Kent WJ, Furey T, Rogic S, Kennedy S, Jones S, Rosenthal A, Wen G, Schilhabel M, Gloeckner G, Nyakatura G, Siebert R, Schlegelberger B, Korenberg J, Chen XN, Fujiyama A, Hattori M, Toyoda A, Yada T, Park HS, Sakaki Y, Shimizu N, Asakawa S, Kawasaki K, Sasaki T, Shintani A, Shimizu A, Shibuya K, Kudoh J, Minoshima S, Ramser J, Seranski P, Hoff C, Poustka A, Reinhardt R, Lehrach H. A physical map of the human genome. Nature. 2001 Feb 15; 409(6822):934-41. PMID: 11237014.
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    396. Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R. A high-resolution map of human chromosome 12. Nature. 2001 Feb 15; 409(6822):945-6. PMID: 11237017.
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    397. Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW. Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase. Ann Neurol. 2001 Feb; 49(2):271-5. PMID: 11220751.
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    398. Hadano S, Yanagisawa Y, Skaug J, Fichter K, Nasir J, Martindale D, Koop BF, Scherer SW, Nicholson DW, Rouleau GA, Ikeda J, Hayden MR. Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: candidate genes for ALS2. Genomics. 2001 Jan 15; 71(2):200-13. PMID: 11161814.
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    399. Seoighe C, Federspiel N, Jones T, Hansen N, Bivolarovic V, Surzycki R, Tamse R, Komp C, Huizar L, Davis RW, Scherer S, Tait E, Shaw DJ, Harris D, Murphy L, Oliver K, Taylor K, Rajandream MA, Barrell BG, Wolfe KH. Prevalence of small inversions in yeast gene order evolution. Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26):14433-7. PMID: 11087826.
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    400. Tosi S, Harbott J, Teigler-Schlegel A, Haas OA, Pirc-Danoewinata H, Harrison CJ, Biondi A, Cazzaniga G, Kempski H, Scherer SW, Kearney L. t(7;12)(q36;p13), a new recurrent translocation involving ETV6 in infant leukemia. Genes Chromosomes Cancer. 2000 Dec; 29(4):325-32. PMID: 11066076.
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    401. Matos P, Skaug J, Marques B, Beck S, Veríssimo F, Gespach C, Boavida MG, Scherer SW, Jordan P. Small GTPase Rac1: structure, localization, and expression of the human gene. Biochem Biophys Res Commun. 2000 Nov 02; 277(3):741-51. PMID: 11062023.
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    402. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet. 2000 Sep; 26(1):71-5. PMID: 10973252.
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    403. Reinke V, Smith HE, Nance J, Wang J, Van Doren C, Begley R, Jones SJ, Davis EB, Scherer S, Ward S, Kim SK. A global profile of germline gene expression in C. elegans. Mol Cell. 2000 Sep; 6(3):605-16. PMID: 11030340.
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    404. Sasaki T, Irie-Sasaki J, Horie Y, Bachmaier K, Fata JE, Li M, Suzuki A, Bouchard D, Ho A, Redston M, Gallinger S, Khokha R, Mak TW, Hawkins PT, Stephens L, Scherer SW, Tsao M, Penninger JM. Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kgamma. Nature. 2000 Aug 24; 406(6798):897-902. PMID: 10972292.
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    405. Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. Neurology. 2000 Aug 08; 55(3):341-6. PMID: 10932264.
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    406. Varley H, Di S, Scherer SW, Royle NJ. Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition. Am J Hum Genet. 2000 Sep; 67(3):610-22. PMID: 10924407.
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    407. Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet. 2000 Aug; 67(2):510-4. PMID: 10889047.
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    408. Grekova MC, Scherer SW, Trabb J, Richert JR. Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization. J Neuroimmunol. 2000 Jul 01; 106(1-2):214-9. PMID: 10814800.
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    409. Vincent JB, Skaug J, Scherer SW. The human homologue of flamingo, EGFL2, encodes a brain-expressed large cadherin-like protein with epidermal growth factor-like domains, and maps to chromosome 1p13.3-p21.1. DNA Res. 2000 Jun 30; 7(3):233-5. PMID: 10907856.
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    410. Hellman A, Rahat A, Scherer SW, Darvasi A, Tsui LC, Kerem B. Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol. 2000 Jun; 20(12):4420-7. PMID: 10825205.
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    411. Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Ann Neurol. 2000 May; 47(5):666-9. PMID: 10805342.
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    412. Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Clin Genet. 2000 May; 57(5):388-93. PMID: 10852374.
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    413. Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Identification of new and common mutations in the EPM2A gene in Lafora disease. Neurology. 2000 Jan 25; 54(2):488-90. PMID: 10668720.
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    414. Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet. 2000 Jan; 66(1):312-9. PMID: 10631160.
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    415. Meloche S, Gopalbhai K, Beatty BG, Scherer SW, Pellerin J. Chromosome mapping of the human genes encoding the MAP kinase kinase MEK1 (MAP2K1) to 15q21 and MEK2 (MAP2K2) to 7q32. Cytogenet Cell Genet. 2000; 88(3-4):249-52. PMID: 10828601.
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    416. Whitmore TE, Holloway JL, Lofton-Day CE, Maurer MF, Chen L, Quinton TJ, Vincent JB, Scherer SW, Lok S. Human secretin (SCT): gene structure, chromosome location, and distribution of mRNA. Cytogenet Cell Genet. 2000; 90(1-2):47-52. PMID: 11060443.
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    417. Beatty BG, Qi S, Pienkowska M, Herbrick JA, Scheidl T, Zhang ZM, Kola I, Scherer SW, Seth A. Chromosomal localization of phospholipase A2 activating protein, an Ets2 target gene, to 9p21. Genomics. 1999 Dec 15; 62(3):529-32. PMID: 10644453.
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    418. Kallinowski B, Scherer S, Mehrabi A, Theilmann L, Stremmel W. Clinical impact of HLA DR B1 genotypes in chronic hepatitis C virus infection. Transplant Proc. 1999 Dec; 31(8):3346-9. PMID: 10616501.
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    419. Yousef GM, Luo LY, Scherer SW, Sotiropoulou G, Diamandis EP. Molecular characterization of zyme/protease M/neurosin (PRSS9), a hormonally regulated kallikrein-like serine protease. Genomics. 1999 Dec 01; 62(2):251-9. PMID: 10610719.
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    420. Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics. 1999 Dec 01; 62(2):289-92. PMID: 10610724.
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    421. Leclerc D, Odièvre M, Wu Q, Wilson A, Huizenga JJ, Rozen R, Scherer SW, Gravel RA. Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene. Gene. 1999 Nov 15; 240(1):75-88. PMID: 10564814.
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    422. Corcoran MM, Mould SJ, Orchard JA, Ibbotson RE, Chapman RM, Boright AP, Platt C, Tsui LC, Scherer SW, Oscier DG. Dysregulation of cyclin dependent kinase 6 expression in splenic marginal zone lymphoma through chromosome 7q translocations. Oncogene. 1999 Nov 04; 18(46):6271-7. PMID: 10597225.
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    423. van Belkum A, van Leeuwen W, Scherer S, Verbrugh H. Occurrence and structure-function relationship of pentameric short sequence repeats in microbial genomes. Res Microbiol. 1999 Nov-Dec; 150(9-10):617-26. PMID: 10673001.
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    424. Neuhaus K, Francis KP, Rapposch S, Görg A, Scherer S. Pathogenic Yersinia species carry a novel, cold-inducible major cold shock protein tandem gene duplication producing both bicistronic and monocistronic mRNA. J Bacteriol. 1999 Oct; 181(20):6449-55. PMID: 10515936.
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    425. Csóka AB, Scherer SW, Stern R. Expression analysis of six paralogous human hyaluronidase genes clustered on chromosomes 3p21 and 7q31. Genomics. 1999 Sep 15; 60(3):356-61. PMID: 10493834.
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    426. Jilani A, Ramotar D, Slack C, Ong C, Yang XM, Scherer SW, Lasko DD. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3'-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage. J Biol Chem. 1999 Aug 20; 274(34):24176-86. PMID: 10446192.
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    427. Tosi S, Scherer SW, Giudici G, Czepulkowski B, Biondi A, Kearney L. Delineation of multiple deleted regions in 7q in myeloid disorders. Genes Chromosomes Cancer. 1999 Aug; 25(4):384-92. PMID: 10398433.
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    428. Loessner MJ, Gaeng S, Scherer S. Evidence for a holin-like protein gene fully embedded out of frame in the endolysin gene of Staphylococcus aureus bacteriophage 187. J Bacteriol. 1999 Aug; 181(15):4452-60. PMID: 10419939.
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    429. Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J, Hayden MR. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug; 22(4):336-45. PMID: 10431236.
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    430. Mansour SJ, Skaug J, Zhao XH, Giordano J, Scherer SW, Melançon P. p200 ARF-GEP1: a Golgi-localized guanine nucleotide exchange protein whose Sec7 domain is targeted by the drug brefeldin A. Proc Natl Acad Sci U S A. 1999 Jul 06; 96(14):7968-73. PMID: 10393931.
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    431. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999 Jun; 22(2):159-63. PMID: 10369257.
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    432. Hwang MY, Kang YJ, Kim YH, Scherer SW, Tsui LC, Sohn U. Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus. Genome. 1999 Jun; 42(3):457-64. PMID: 10382293.
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    433. Dimster-Denk D, Rine J, Phillips J, Scherer S, Cundiff P, DeBord K, Gilliland D, Hickman S, Jarvis A, Tong L, Ashby M. Comprehensive evaluation of isoprenoid biosynthesis regulation in Saccharomyces cerevisiae utilizing the Genome Reporter Matrix. J Lipid Res. 1999 May; 40(5):850-60. PMID: 10224154.
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    434. Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics. 1999 May 01; 57(3):342-51. PMID: 10329000.
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    435. Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Genomics. 1999 Apr 15; 57(2):279-84. PMID: 10198167.
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    436. de Silva MG, Kantharidis P, Scherer SW, Rayeroux K, Campbell L, Tsui LC, Zalcberg JR. Physical mapping of a tandem duplication on the long arm of chromosome 7 associated with a multidrug resistant phenotype. Cancer Genet Cytogenet. 1999 Apr; 110(1):28-33. PMID: 10198619.
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    437. Tosi S, Giudici G, Rambaldi A, Scherer SW, Bray-Ward P, Dirscherl L, Biondi A, Kearney L. Characterization of the human myeloid leukemia-derived cell line GF-D8 by multiplex fluorescence in situ hybridization, subtelomeric probes, and comparative genomic hybridization. Genes Chromosomes Cancer. 1999 Mar; 24(3):213-21. PMID: 10451701.
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    438. Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV. Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy. Ann Neurol. 1999 Feb; 45(2):262-5. PMID: 9989632.
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    439. Crackower MA, Sinasac DS, Xia J, Motoyama J, Prochazka M, Rommens JM, Scherer SW, Tsui LC. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. Genomics. 1999 Feb 01; 55(3):257-67. PMID: 10049579.
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    440. Hadano S, Nichol K, Brinkman RR, Nasir J, Martindale D, Koop BF, Nicholson DW, Scherer SW, Ikeda JE, Hayden MR. A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. Genomics. 1999 Jan 01; 55(1):106-12. PMID: 9889004.
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    441. Scherer S. Axonal pathology in demyelinating diseases. Ann Neurol. 1999 Jan; 45(1):6-7. PMID: 9894870.
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    442. Jaeger C, Hatziagelaki E, Stroedter A, Becker F, Scherer S, Petzoldt R, Federlin K, Bretzel RG. The Giessen-Bad Oeynhausen family study: improved prediction of type I diabetes in a low incidence population of relatives using combinations of islet autoantibodies in a dual step model. Exp Clin Endocrinol Diabetes. 1999; 107(8):496-505. PMID: 10612480.
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    443. Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). Cytogenet Cell Genet. 1999; 87(3-4):191-4. PMID: 10702664.
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    444. Crackower MA, Sinasac DS, Lee JR, Herbrick JA, Tsui LC, Scherer SW. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. Cytogenet Cell Genet. 1999; 87(3-4):197-8. PMID: 10702666.
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    445. Egan S, Herbrick JA, Tsui LC, Cohen B, Flock G, Beatty B, Scherer SW. Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic Fringe (MFNG) to 22q12. Genomics. 1998 Dec 15; 54(3):576-7. PMID: 9878264.
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    446. Jadayel DM, Osborne LR, Coignet LJ, Zani VJ, Tsui LC, Scherer SW, Dyer MJ. The BCL7 gene family: deletion of BCL7B in Williams syndrome. Gene. 1998 Dec 11; 224(1-2):35-44. PMID: 9931421.
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    447. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet. 1998 Dec; 20(4):358-61. PMID: 9843207.
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    448. Mansour SJ, Herbrick JA, Scherer SW, Melançon P. Human GBF1 is a ubiquitously expressed gene of the sec7 domain family mapping to 10q24. Genomics. 1998 Dec 01; 54(2):323-7. PMID: 9828135.
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    449. Döhner K, Brown J, Hehmann U, Hetzel C, Stewart J, Lowther G, Scholl C, Fröhling S, Cuneo A, Tsui LC, Lichter P, Scherer SW, Döhner H. Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood. 1998 Dec 01; 92(11):4031-5. PMID: 9834205.
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    450. Hegele RA, Harris SB, Connelly PW, Hanley AJ, Tsui LC, Zinman B, Scherer SW. Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree. Clin Genet. 1998 Nov; 54(5):394-9. PMID: 9842991.
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    451. Hegele RA, Harris SB, Zinman B, Wang J, Cao H, Hanley AJ, Tsui LC, Scherer SW. Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians. J Clin Endocrinol Metab. 1998 Nov; 83(11):3980-3. PMID: 9814479.
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    452. Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998 Oct; 20(2):171-4. PMID: 9771710.
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    453. Glöckner G, Scherer S, Schattevoy R, Boright A, Weber J, Tsui LC, Rosenthal A. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. Genome Res. 1998 Oct; 8(10):1060-73. PMID: 9799793.
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    454. Xia J, Scherer SW, Cohen PT, Majer M, Xi T, Norman RA, Knowler WC, Bogardus C, Prochazka M. A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes. Diabetes. 1998 Sep; 47(9):1519-24. PMID: 9726244.
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    455. Ogino H, Nakabayashi K, Michishita E, Scherer SW, Fujii M, Suzuki T, Ayusawa D. Clustering of human chromosome fragments on the mouse genome by chromosome-mediated gene transfer. DNA Res. 1998 Aug 31; 5(4):247-50. PMID: 9802571.
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    456. Lunel FV, Licciardello L, Stefani S, Verbrugh HA, Melchers WJ, Meis JF, Scherer S, van Belkum A. Lack of consistent short sequence repeat polymorphisms in genetically homologous colonizing and invasive Candida albicans strains. J Bacteriol. 1998 Aug; 180(15):3771-8. PMID: 9683470.
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    457. Chibana H, Magee BB, Grindle S, Ran Y, Scherer S, Magee PT. A physical map of chromosome 7 of Candida albicans. Genetics. 1998 Aug; 149(4):1739-52. PMID: 9691033.
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    458. Mishmar D, Rahat A, Scherer SW, Nyakatura G, Hinzmann B, Kohwi Y, Mandel-Gutfroind Y, Lee JR, Drescher B, Sas DE, Margalit H, Platzer M, Weiss A, Tsui LC, Rosenthal A, Kerem B. Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc Natl Acad Sci U S A. 1998 Jul 07; 95(14):8141-6. PMID: 9653154.
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    459. Haila S, Höglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle A, Kere J. Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene. 1998 Jul 03; 214(1-2):87-93. PMID: 9729124.
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    460. Boright AP, Connelly PW, Brunt JH, Scherer SW, Tsui LC, Hegele RA. Genetic variation in paraoxonase-1 and paraoxonase-2 is associated with variation in plasma lipoproteins in Alberta Hutterites. Atherosclerosis. 1998 Jul; 139(1):131-6. PMID: 9699900.
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    461. Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet. 1998 Jul; 7(7):1105-12. PMID: 9618167.
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    462. Luo L, Herbrick JA, Scherer SW, Beatty B, Squire J, Diamandis EP. Structural characterization and mapping of the normal epithelial cell-specific 1 gene. Biochem Biophys Res Commun. 1998 Jun 29; 247(3):580-6. PMID: 9647736.
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    463. Mochizuki H, Scherer SW, Xi T, Nickle DC, Majer M, Huizenga JJ, Tsui LC, Prochazka M. Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence. Gene. 1998 Jun 15; 213(1-2):149-57. PMID: 9714608.
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    464. Hoyer LL, Payne TL, Bell M, Myers AM, Scherer S. Candida albicans ALS3 and insights into the nature of the ALS gene family. Curr Genet. 1998 Jun; 33(6):451-9. PMID: 9644209.
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    465. Loessner MJ, Gaeng S, Wendlinger G, Maier SK, Scherer S. The two-component lysis system of Staphylococcus aureus bacteriophage Twort: a large TTG-start holin and an associated amidase endolysin. FEMS Microbiol Lett. 1998 May 15; 162(2):265-74. PMID: 9627962.
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    466. Torigoe K, Harada T, Kusaba H, Uchiumi T, Kohno K, Green ED, Scherer SW, Tsui LC, Schlessinger D, Kuwano M, Wada M. Localization of 67 exons on a YAC contig spanning 1.5 Mb around the multidrug resistance gene region of human chromosome 7q21.1. Genomics. 1998 Apr 01; 49(1):14-22. PMID: 9570944.
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    467. Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet. 1998 Apr; 102(4):387-92. PMID: 9600232.
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    468. Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A. 1998 Mar 17; 95(6):3059-64. PMID: 9501215.
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    469. White JA, Beckett B, Scherer SW, Herbrick JA, Petkovich M. P450RAI (CYP26A1) maps to human chromosome 10q23-q24 and mouse chromosome 19C2-3. Genomics. 1998 Mar 01; 48(2):270-2. PMID: 9521883.
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    470. Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. Hum Mol Genet. 1998 Mar; 7(3):501-5. PMID: 9467010.
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    471. Csóka AB, Frost GI, Heng HH, Scherer SW, Mohapatra G, Stern R, Csóka TB. The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. Genomics. 1998 Feb 15; 48(1):63-70. PMID: 9503017.
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    472. Malik N, Canfield V, Sanchez-Watts G, Watts AG, Scherer S, Beatty BG, Gros P, Levenson R. Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene. Mamm Genome. 1998 Feb; 9(2):136-43. PMID: 9457675.
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    473. de la Puente A, Velasco E, Pérez Jurado LA, Hernández-Chico C, van de Rijke FM, Scherer SW, Raap AK, Cruces J. Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7. Cytogenet Cell Genet. 1998; 83(3-4):176-81. PMID: 10072574.
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    474. Fischer K, Brown J, Scherer SW, Schramm P, Stewart J, Fugazza G, Pascheberg U, Peter W, Tsui LC, Lichter P, Döhner H. Delineation of genomic regions in chromosome band 7q22 commonly deleted in myeloid leukemias. Recent Results Cancer Res. 1998; 144:46-52. PMID: 9304706.
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    475. Einheber S, Zanazzi G, Ching W, Scherer S, Milner TA, Peles E, Salzer JL. The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate-like paranodal junctions that assemble during myelination. J Cell Biol. 1997 Dec 15; 139(6):1495-506. PMID: 9396755.
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    476. Mueller HW, Michel A, Heckel D, Fischer U, Tönnes M, Tsui LC, Scherer S, Zang KD, Meese E. Identification of an amplified gene cluster in glioma including two novel amplified genes isolated by exon trapping. Hum Genet. 1997 Dec; 101(2):190-7. PMID: 9402967.
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    477. Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell. 1997 Nov 14; 91(4):543-53. PMID: 9390563.
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    478. Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH. Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics. 1997 Nov 01; 45(3):541-53. PMID: 9367679.
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    479. Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Genomics. 1997 Oct 15; 45(2):402-6. PMID: 9344666.
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    480. Hegele RA, Connelly PW, Scherer SW, Hanley AJ, Harris SB, Tsui LC, Zinman B. Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab. 1997 Oct; 82(10):3373-7. PMID: 9329371.
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    481. Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet. 1997 Oct; 6(11):1847-53. PMID: 9302262.
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    482. Duh FM, Scherer SW, Tsui LC, Lerman MI, Zbar B, Schmidt L. Gene structure of the human MET proto-oncogene. Oncogene. 1997 Sep 25; 15(13):1583-6. PMID: 9380410.
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    483. Hegele RA, Connelly PW, Scherer SW, Hanley AJ, Harris SB, Tsui LC, Zinman B. Paraoxonase-2 G148 variant in an aboriginal Canadian girl with non-insulin-dependent diabetes. Lancet. 1997 Sep 13; 350(9080):785. PMID: 9298006.
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    484. Scherer SW, Soder S, Duvoisin RM, Huizenga JJ, Tsui LC. The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. Genomics. 1997 Sep 01; 44(2):232-6. PMID: 9299241.
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    485. Osborne LR, Lee JR, Scherer SW. Resources for human genetics on the World Wide Web. Mol Med Today. 1997 Sep; 3(9):370-3. PMID: 9302686.
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    486. Awatramani R, Scherer S, Grinspan J, Collarini E, Skoff R, O'Hagan D, Garbern J, Kamholz J. Evidence that the homeodomain protein Gtx is involved in the regulation of oligodendrocyte myelination. J Neurosci. 1997 Sep 01; 17(17):6657-68. PMID: 9254678.
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    487. Crackower MA, Heng HH, Shi X, Scherer SW, Tsui LC. Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. Mamm Genome. 1997 Sep; 8(9):704. PMID: 9271682.
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    488. Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC. Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Am J Hum Genet. 1997 Aug; 61(2):449-52. PMID: 9311751.
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    489. Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet. 1997 Aug; 100(2):172-81. PMID: 9254845.
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    490. Beige J, Scherer S, Weber A, Engeli S, Offermann G, Opelz G, Distler A, Sharma AM. Angiotensin-converting enzyme genotype and renal allograft survival. J Am Soc Nephrol. 1997 Aug; 8(8):1319-23. PMID: 9259361.
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    491. Nasir J, Theilmann JL, Vaillancourt JP, Munday NA, Ali A, Scherer S, Beatty B, Nicholson DW, Hayden MR. Interleukin-1beta-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3. Mamm Genome. 1997 Aug; 8(8):611-3. PMID: 9250871.
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    492. Krebs I, Weis I, Hudler M, Rommens JM, Roth H, Scherer SW, Tsui LC, Füchtbauer EM, Grzeschik KH, Tsuji K, Kunz J. Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome. Hum Mol Genet. 1997 Jul; 6(7):1079-86. PMID: 9215678.
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    493. Kusaba H, Nakayama M, Harada T, Torigoe K, Green ED, Scherer SW, Kohno K, Kuwano M, Wada M. Maintenance of hypomethylation status and preferential expression of exogenous human MDR1/PGY1 gene in mouse L cells by YAC mediated transfer. Somat Cell Mol Genet. 1997 Jul; 23(4):259-74. PMID: 9542528.
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    494. Edelson MI, Scherer SW, Tsui LC, Welch WR, Bell DA, Berkowitz RS, Mok SC. Identification of a 1300 kilobase deletion unit on chromosome 7q31.3 in invasive epithelial ovarian carcinomas. Oncogene. 1997 Jun 19; 14(24):2979-84. PMID: 9205105.
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    495. Zeng WR, Scherer SW, Koutsilieris M, Huizenga JJ, Filteau F, Tsui LC, Nepveu A. Loss of heterozygosity and reduced expression of the CUTL1 gene in uterine leiomyomas. Oncogene. 1997 May 15; 14(19):2355-65. PMID: 9178912.
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    496. Loessner MJ, Maier SK, Daubek-Puza H, Wendlinger G, Scherer S. Three Bacillus cereus bacteriophage endolysins are unrelated but reveal high homology to cell wall hydrolases from different bacilli. J Bacteriol. 1997 May; 179(9):2845-51. PMID: 9139898.
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    497. Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet. 1997 May; 16(1):68-73. PMID: 9140397.
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    498. Tambini CE, George AM, Rommens JM, Tsui LC, Scherer SW, Thacker J. The XRCC2 DNA repair gene: identification of a positional candidate. Genomics. 1997 Apr 01; 41(1):84-92. PMID: 9126486.
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    499. Fischer K, Fröhling S, Scherer SW, McAllister Brown J, Scholl C, Stilgenbauer S, Tsui LC, Lichter P, Döhner H. Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood. 1997 Mar 15; 89(6):2036-41. PMID: 9058725.
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    500. Jerome CA, Scherer SW, Tsui LC, Gietz RD, Triggs-Raine B. Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. Genomics. 1997 Feb 15; 40(1):215-6. PMID: 9070953.
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    501. Crackower MA, Scherer SW, Heng HH, Tsui LC. Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14. Mamm Genome. 1997 Feb; 8(2):159-60. PMID: 9060422.
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    502. Crackower MA, Scherer SW, Heng HH, Tsui LC. Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4. Mamm Genome. 1997 Feb; 8(2):159-60. PMID: 27518309.
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    503. Alley TL, Scherer SW, Huizenga JJ, Tsui LC, Wallace MR. Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2). Am J Med Genet. 1997 Jan 31; 68(3):279-81. PMID: 9024559.
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    504. Rozman D, Strömstedt M, Tsui LC, Scherer SW, Waterman MR. Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes. Genomics. 1996 Dec 15; 38(3):371-81. PMID: 8975714.
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    505. Gaedigk R, Karges W, Hui MF, Scherer SW, Dosch HM. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. Genomics. 1996 Dec 15; 38(3):382-91. PMID: 8975715.
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    506. Lin JC, Scherer SW, Tougas L, Traverso G, Tsui LC, Andrulis IL, Jothy S, Park M. Detailed deletion mapping with a refined physical map of 7q31 localizes a putative tumor suppressor gene for breast cancer in the region of MET. Oncogene. 1996 Nov 07; 13(9):2001-8. PMID: 8934547.
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    507. Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ. Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics. 1996 Nov 01; 37(3):345-53. PMID: 8938447.
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    508. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996 Nov; 14(3):353-6. PMID: 8896571.
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    509. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996 Nov; 14(3):357-60. PMID: 8896572.
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    510. Rowles J, Scherer SW, Xi T, Majer M, Nickle DC, Rommens JM, Popov KM, Harris RA, Riebow NL, Xia J, Tsui LC, Bogardus C, Prochazka M. Cloning and characterization of PDK4 on 7q21.3 encoding a fourth pyruvate dehydrogenase kinase isoenzyme in human. J Biol Chem. 1996 Sep 13; 271(37):22376-82. PMID: 8798399.
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    511. Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. Genomics. 1996 Sep 01; 36(2):328-36. PMID: 8812460.
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    512. Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL, Attisano L. MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Cell. 1996 Aug 23; 86(4):543-52. PMID: 8752209.
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    513. Scherer SW, Feinstein DS, Oliveira L, Tsui LC, Pittler SJ. Gene structure and chromosome localization to 7q21.3 of the human rod photoreceptor transducin gamma-subunit gene (GNGT1). Genomics. 1996 Jul 01; 35(1):241-3. PMID: 8661128.
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    514. Nakabayashi K, Ogata T, Fujii M, Takahashi E, Ogino H, Michishita E, Scherer SW, Tsui LC, Ayusawa D. A panel of radiation hybrids defining the 7q31-q32 region of human chromosome 7. DNA Res. 1996 Jun 30; 3(3):181-3. PMID: 8905237.
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    515. Ignatius J, Knuutila S, Scherer SW, Trask B, Kere J. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. J Med Genet. 1996 Jun; 33(6):507-10. PMID: 8782053.
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    516. Mayr B, Kaplan T, Lechner S, Scherer S. Identification and purification of a family of dimeric major cold shock protein homologs from the psychrotrophic Bacillus cereus WSBC 10201. J Bacteriol. 1996 May; 178(10):2916-25. PMID: 8631682.
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    517. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet. 1996 May; 5(5):571-9. PMID: 8733122.
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    518. Johnson EJ, Scherer SW, Osborne L, Tsui LC, Oscier D, Mould S, Cotter FE. Molecular definition of a narrow interval at 7q22.1 associated with myelodysplasia. Blood. 1996 May 01; 87(9):3579-86. PMID: 8611680.
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    519. Tosi S, Harbott J, Haas OA, Douglas A, Hughes DM, Ross FM, Biondi A, Scherer SW, Kearney L. Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH). Leukemia. 1996 Apr; 10(4):644-9. PMID: 8618441.
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    520. Valdes-Stauber N, Scherer S. Nucleotide sequence and taxonomical distribution of the bacteriocin gene lin cloned from Brevibacterium linens M18. Appl Environ Microbiol. 1996 Apr; 62(4):1283-6. PMID: 8919789.
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    521. Höglund P, Haila S, Scherer SW, Tsui LC, Green ED, Weissenbach J, Holmberg C, de la Chapelle A, Kere J. Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res. 1996 Mar; 6(3):202-10. PMID: 8963897.
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    522. Scherer SW, Duvoisin RM, Kuhn R, Heng HH, Belloni E, Tsui LC. Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q. Genomics. 1996 Jan 15; 31(2):230-3. PMID: 8824806.
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    523. Takahara K, Osborne L, Elliott RW, Tsui LC, Scherer SW, Greenspan DS. Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein. Genomics. 1996 Jan 15; 31(2):253-6. PMID: 8824813.
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    524. Molnár A, Wu P, Largespada DA, Vortkamp A, Scherer S, Copeland NG, Jenkins NA, Bruns G, Georgopoulos K. The Ikaros gene encodes a family of lymphocyte-restricted zinc finger DNA binding proteins, highly conserved in human and mouse. J Immunol. 1996 Jan 15; 156(2):585-92. PMID: 8543809.
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    525. Schanen NC, Scherer SW, Tsui LC, Francke U. Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1. Cytogenet Cell Genet. 1996; 72(2-3):187-8. PMID: 8978771.
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    526. Loessner MJ, Scherer S. Organization and transcriptional analysis of the Listeria phage A511 late gene region comprising the major capsid and tail sheath protein genes cps and tsh. J Bacteriol. 1995 Nov; 177(22):6601-9. PMID: 7592439.
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    527. Torigoe K, Sato S, Kusaba H, Kohno K, Kuwano M, Okumura K, Green ED, Tsui LC, Scherer SW, Schlessinger D, Wada M. A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines. Genome Res. 1995 Oct; 5(3):233-44. PMID: 8593611.
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    528. Barron-Casella EA, Torres MA, Scherer SW, Heng HH, Tsui LC, Casella JF. Sequence analysis and chromosomal localization of human Cap Z. Conserved residues within the actin-binding domain may link Cap Z to gelsolin/severin and profilin protein families. J Biol Chem. 1995 Sep 15; 270(37):21472-9. PMID: 7665558.
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    529. Shustik C, Jamison BM, Alfieri C, Scherer S, Loertscher R. A solitary plasmacytoma of donor origin arising 14 years after kidney allotransplantation. Br J Haematol. 1995 Sep; 91(1):167-8. PMID: 7577626.
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    530. Scherer SW, Hoheisel JD. Genome analysis. Mol Med Today. 1995 Sep; 1(6):258-9. PMID: 9415159.
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    531. Loessner MJ, Wendlinger G, Scherer S. Heterogeneous endolysins in Listeria monocytogenes bacteriophages: a new class of enzymes and evidence for conserved holin genes within the siphoviral lysis cassettes. Mol Microbiol. 1995 Jun; 16(6):1231-41. PMID: 8577256.
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    532. Alley TL, Gray BA, Lee SH, Scherer SW, Tsui LC, Tint GS, Williams CA, Zori R, Wallace MR. Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet. 1995 Jun; 56(6):1411-6. PMID: 7762564.
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    533. Gallo V, Pende M, Scherer S, Molné M, Wright P. Expression and regulation of kainate and AMPA receptors in uncommitted and committed neural progenitors. Neurochem Res. 1995 May; 20(5):549-60. PMID: 7643960.
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    534. Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC. Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization. Mamm Genome. 1995 Apr; 6(4):310-1. PMID: 7613049.
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    535. Barton RC, van Belkum A, Scherer S. Stability of karyotype in serial isolates of Candida albicans from neutropenic patients. J Clin Microbiol. 1995 Apr; 33(4):794-6. PMID: 7790439.
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    536. Thacker J, Tambini CE, Simpson PJ, Tsui LC, Scherer SW. Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents. Hum Mol Genet. 1995 Jan; 4(1):113-20. PMID: 7711722.
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    537. Hoyer LL, Scherer S, Shatzman AR, Livi GP. Candida albicans ALS1: domains related to a Saccharomyces cerevisiae sexual agglutinin separated by a repeating motif. Mol Microbiol. 1995 Jan; 15(1):39-54. PMID: 7752895.
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    538. Kamholz J, Shy M, Scherer S. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol. 1994 Sep; 36(3):451-2. PMID: 8080259.
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    539. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet. 1994 Aug; 3(8):1345-54. PMID: 7987313.
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    540. Scherer S, McPeek MS, Speed TP. Atypical regions in large genomic DNA sequences. Proc Natl Acad Sci U S A. 1994 Jul 19; 91(15):7134-8. PMID: 8041759.
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    541. Kunz J, Scherer SW, Klawitz I, Soder S, Du YZ, Speich N, Kalff-Suske M, Heng HH, Tsui LC, Grzeschik KH. Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones. Genomics. 1994 Jul 15; 22(2):439-48. PMID: 7806232.
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    542. Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, Evans JP. Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet. 1994 Jul; 55(1):21-6. PMID: 7912888.
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    543. Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, et al. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet. 1994 Jul; 55(1):12-20. PMID: 8023840.
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    544. Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun; 3(6):969-75. PMID: 7951247.
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    545. Hoyer LL, Magee BB, Rikkerink EH, Scherer S. The ARG4 gene of Candida albicans. Gene. 1994 May 16; 142(2):213-8. PMID: 8194754.
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    546. van Belkum A, Melchers W, de Pauw BE, Scherer S, Quint W, Meis JF. Genotypic characterization of sequential Candida albicans isolates from fluconazole-treated neutropenic patients. J Infect Dis. 1994 May; 169(5):1062-70. PMID: 8169392.
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    547. Vamvakopoulos NC, Kunz J, Olberding U, Scherer SW, Sioutopoulou TO, Schneider V, Durkin AS, Nierman WC. Mapping the human growth hormone-releasing hormone receptor (GHRHR) gene to the short arm of chromosome 7 (7p13-p21) near the epidermal growth factor receptor (EGFR) gene. Genomics. 1994 Mar 15; 20(2):338-40. PMID: 8020995.
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    548. Barton RC, Scherer S. Induced chromosome rearrangements and morphologic variation in Candida albicans. J Bacteriol. 1994 Feb; 176(3):756-63. PMID: 8300529.
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    549. Powers PA, Scherer SW, Tsui LC, Gregg RG, Hogan K. Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis. Genomics. 1994 Jan 01; 19(1):192-3. PMID: 8188232.
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    550. Heng HH, Shi XM, Scherer SW, Andrulis IL, Tsui LC. Refined localization of the asparagine synthetase gene (ASNS) to chromosome 7, region q21.3, and characterization of the somatic cell hybrid line 4AF/106/KO15. Cytogenet Cell Genet. 1994; 66(2):135-8. PMID: 7904551.
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    551. Peichel CL, Scherer SW, Tsui LC, Beier DR, Vogt TF. Mapping the midkine family of developmentally regulated signaling molecules. Mamm Genome. 1993 Nov; 4(11):632-8. PMID: 8281012.
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    552. Marsden PA, Heng HH, Scherer SW, Stewart RJ, Hall AV, Shi XM, Tsui LC, Schappert KT. Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene. J Biol Chem. 1993 Aug 15; 268(23):17478-88. PMID: 7688726.
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    553. Scherer SW, Rommens JM, Soder S, Wong E, Plavsic N, Tompkins BJ, Beattie A, Kim J, Tsui LC. Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region. Hum Mol Genet. 1993 Jun; 2(6):751-60. PMID: 8353494.
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    554. Scherer SW, Neufeld EJ, Lievens PM, Orkin SH, Kim J, Tsui LC. Regional localization of the CCAAT displacement protein gene (CUTL1) to 7q22 by analysis of somatic cell hybrids. Genomics. 1993 Mar; 15(3):695-6. PMID: 8468066.
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    555. Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet. 1993 Mar; 3(3):247-51. PMID: 8485580.
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    556. Mytilineos J, Scherer S, Trejaut J, Dunckley H, Chapman J, Fischer G, Fae I, Middleton D, Savage D, Bignon JD, et al. Analysis of discrepancies between serologic and DNA-RFLP typing for HLA-DR in kidney graft recipients. Transplant Proc. 1992 Dec; 24(6):2478-9. PMID: 1361257.
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    557. Kamholz J, Sessa M, Scherer S, Vogelbacker H, Mokuno K, Baron P, Wrabetz L, Shy M, Pleasure D. Structure and expression of proteolipid protein in the peripheral nervous system. J Neurosci Res. 1992 Feb; 31(2):231-44. PMID: 1374129.
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    558. Scherer SW, Tompkins BJ, Tsui LC. A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes. Mamm Genome. 1992; 3(3):179-81. PMID: 1617225.
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    559. Wickes B, Staudinger J, Magee BB, Kwon-Chung KJ, Magee PT, Scherer S. Physical and genetic mapping of Candida albicans: several genes previously assigned to chromosome 1 map to chromosome R, the rDNA-containing linkage group. Infect Immun. 1991 Jul; 59(7):2480-4. PMID: 2050413.
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    560. Scherer S, Herrmann G, Hirschberg J, Böger P. Evidence for multiple xenogenous origins of plastids: comparison of psbA-genes with a xanthophyte sequence. Curr Genet. 1991 Jun; 19(6):503-7. PMID: 1879002.
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    561. Scherer SW, Otulakowski G, Robinson BH, Tsui LC. Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31----q32. Cytogenet Cell Genet. 1991; 56(3-4):176-7. PMID: 2055113.
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    562. Becker F, Buschler H, Scherer S, Petzoldt H, Sauer H, Bretzel RG, Federlin K. Identifying the pre-diabetic state in type I diabetics: condition for early intervention. J Autoimmun. 1990 Oct; 3(5):639-42. PMID: 2252532.
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    563. Dowhanick TM, Russell I, Scherer SW, Stewart GG, Seligy VL. Expression and regulation of glucoamylase from the yeast Schwanniomyces castellii. J Bacteriol. 1990 May; 172(5):2360-6. PMID: 2110140.
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    564. Simske JS, Scherer S. Pulsed-field gel electrophoresis of circular DNA. Nucleic Acids Res. 1989 Jun 12; 17(11):4359-65. PMID: 2662139.
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    565. Scherer S, Mann C, Davis RW. Reversion of a promoter deletion in yeast. Nature. 1982 Aug 26; 298(5877):815-9. PMID: 6287274.
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    566. Davis RW, Thomas M, Cameron J, St John TP, Scherer S, Padgett RA. Rapid DNA isolations for enzymatic and hybridization analysis. Methods Enzymol. 1980; 65(1):404-11. PMID: 6246361.
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