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Rosanna Weksberg

TitleStaff Physician
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Biography 
    Collapse education and training
    University of Toronto, TorontoPhD1976Medical Biophysics
    University of Toronto, TorontoMD1978

    Collapse Overview 
    Collapse overview
    Dr. Weksberg’s research is focused on elucidating the role of epigenetics in human disease. In particular the lab is interested in exploring the impact of genetic and environmental factors on epigenetic marks and their role in human growth and neurodevelopment. Recent work highlights the study of genome–wide epigenetic variation in different normal human tissues as well as in neurodevelopmental syndromes and growth disorders. Considerable effort has also, in recent years, been directed at defining the optimal experimental systems to use for the identification of epigenetic alterations associated with human disease. Specifically these have included evaluations of various cell types, genome-wide microarray platforms, validation techniques, and bioinformatics tools. Over 200 peer-reviewed papers have been published.
    Dr. Weksberg is a Professor of Pediatrics and Genetics at the University of Toronto and holds a graduate appointment in the Institute of Medical Sciences. Dr. Weksberg is an Associate Editor for the American Journal of Medical Genetics.


    Collapse Bibliographic 
    Collapse selected publications
    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. Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson RJ, Finlay JL, Jabado N, Thomas C, Sill M, Capper D, Hasselblatt M, Malkin D. Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. Clin Epigenetics. 2019 Oct 21; 11(1):144. PMID: 31639040.
      View in: PubMed
    2. Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW. A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ Genom Med. 2019; 4:26. PMID: 31602316.
      View in: PubMed
    3. Martin-Herranz DE, Aref-Eshghi E, Bonder MJ, Stubbs TM, Choufani S, Weksberg R, Stegle O, Sadikovic B, Reik W, Thornton JM. Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1. Genome Biol. 2019 08 14; 20(1):146. PMID: 31409373.
      View in: PubMed
    4. Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson RJ, Finlay JL, Jabado N, Thomas C, Sill M, Capper D, Hasselblatt M, Malkin D. DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. Clin Epigenetics. 2019 Aug 13; 11(1):117. PMID: 31409384.
      View in: PubMed
    5. Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 Oct; 179(10):2049-2055. PMID: 31400068.
      View in: PubMed
    6. Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics. 2019 Jul 16; 11(1):103. PMID: 31311581.
      View in: PubMed
    7. Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 07 09; 12(1):105. PMID: 31288860.
      View in: PubMed
    8. Cullinan N, Villani A, Mourad S, Somers GR, Reichman L, van Engelen K, Stephens D, Weksberg R, Foulkes WD, Malkin D, Grant R, Goudie C. An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor. Int J Cancer. 2019 Jul 08. PMID: 31286500.
      View in: PubMed
    9. Lee Y, Choufani S, Weksberg R, Wilson SL, Yuan V, Burt A, Marsit C, Lu AT, Ritz B, Bohlin J, Gjessing HK, Harris JR, Magnus P, Binder AM, Robinson WP, Jugessur A, Horvath S. Placental epigenetic clocks: estimating gestational age using placental DNA methylation levels. Aging (Albany NY). 2019 Jun 24; 11(12):4238-4253. PMID: 31235674.
      View in: PubMed
    10. Bilic M, Qamar H, Onoyovwi A, Korsiak J, Papp E, Al Mahmud A, Weksberg R, Gernand AD, Harrington J, Roth DE. Prenatal vitamin D and cord blood insulin-like growth factors in Dhaka, Bangladesh. Endocr Connect. 2019 May 01. PMID: 31071681.
      View in: PubMed
    11. Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW. Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. NPJ Genom Med. 2019; 4:9. PMID: 31044088.
      View in: PubMed
    12. Weksberg R, Brzezinski J. Identifying new Wilms' tumour predisposition genes. Lancet Child Adolesc Health. 2019 May; 3(5):285-287. PMID: 30885697.
      View in: PubMed
    13. Yeung KS, Lee TL, Mok MY, Mak CCY, Yang W, Chong PCY, Lee PPW, Ho MHK, Choufani S, Lau CS, Lau YL, Weksberg R, Chung BHY. Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus. Epigenetics. 2019 Apr; 14(4):341-351. PMID: 30806140.
      View in: PubMed
    14. Turinsky AL, Butcher DT, Choufani S, Weksberg R, Brudno M. Don't brush off buccal data heterogeneity. Epigenetics. 2019 Feb; 14(2):109-117. PMID: 30821575.
      View in: PubMed
    15. Choufani S, Turinsky AL, Melamed N, Greenblatt E, Brudno M, Bérard A, Fraser WD, Weksberg R, Trasler J, Monnier P. Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome. Hum Mol Genet. 2019 02 01; 28(3):372-385. PMID: 30239726.
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    16. Sidler M, Aitken KJ, Jiang JX, Sotiropoulos C, Aggarwal P, Anees A, Chong C, Siebenaller A, Thanabalasingam T, White JM, Choufani S, Weksberg R, Sangiorgi B, Wrana J, Delgado-Olguin P, Bägli DJ. DNA Methylation Reduces the Yes-Associated Protein 1/WW Domain Containing Transcription Regulator 1 Pathway and Prevents Pathologic Remodeling during Bladder Obstruction by Limiting Expression of BDNF. Am J Pathol. 2018 10; 188(10):2177-2194. PMID: 30121256.
      View in: PubMed
    17. Roth DE, Morris SK, Zlotkin S, Gernand AD, Ahmed T, Shanta SS, Papp E, Korsiak J, Shi J, Islam MM, Jahan I, Keya FK, Willan AR, Weksberg R, Mohsin M, Rahman QS, Shah PS, Murphy KE, Stimec J, Pell LG, Qamar H, Al Mahmud A. Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth. N Engl J Med. 2018 Aug 09; 379(6):535-546. PMID: 30089075.
      View in: PubMed
    18. Spencer Noakes TL, Przybycien TS, Forwell A, Nicholls C, Zhou YQ, Butcher DT, Weksberg R, Guger SL, Spiegler BJ, Schachar RJ, Hitzler J, Ito S, van der Plas E, Nieman BJ. Brain Development and Heart Function after Systemic Single-Agent Chemotherapy in a Mouse Model of Childhood Leukemia Treatment. Clin Cancer Res. 2018 12 01; 24(23):6040-6052. PMID: 30054283.
      View in: PubMed
    19. 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 12; 55(12):847-852. PMID: 30007940.
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    20. 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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    21. Alahari S, Post M, Rolfo A, Weksberg R, Caniggia I. Compromised JMJD6 Histone Demethylase Activity Affects VHL Gene Repression in Preeclampsia. J Clin Endocrinol Metab. 2018 04 01; 103(4):1545-1557. PMID: 29373688.
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    22. 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 05; 55(5):316-321. PMID: 29599419.
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    23. 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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    24. Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Reply to Brioude et al. Eur J Hum Genet. 2018 04; 26(4):473-474. PMID: 29449717.
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    25. 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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    26. Van Der Plas E, Erdman L, Nieman BJ, Weksberg R, Butcher DT, O'connor DL, Aufreiter S, Hitzler J, Guger SL, Schachar RJ, Ito S, Spiegler BJ. Characterizing neurocognitive late effects in childhood leukemia survivors using a combination of neuropsychological and cognitive neuroscience measures. Child Neuropsychol. 2018 11; 24(8):999-1014. PMID: 29017430.
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    27. 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.
      View in: PubMed
    28. Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. Eur J Hum Genet. 2017 09; 25(9):1031-1039. PMID: 28699632.
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    29. 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.
      View in: PubMed
    30. Hoang N, Hayeems R, Davies J, Pu S, Wasim S, Velsher L, Aw J, Chénier S, Stavropoulos DJ, Babul-Hirji R, Weksberg R, Shuman C. Does personal genome testing drive service utilization in an adult preventive medicine clinic? J Community Genet. 2017 Jul; 8(3):151-158. PMID: 28374280.
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    31. 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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    32. Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. Am J Hum Genet. 2017 Mar 02; 100(3):488-505. PMID: 28257691.
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    33. Yeung KS, Chung BH, Choufani S, Mok MY, Wong WL, Mak CC, Yang W, Lee PP, Wong WH, Chen YA, Grafodatskaya D, Wong RW, Lau CS, Chan DT, Weksberg R, Lau YL. Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway. PLoS One. 2017; 12(1):e0169553. PMID: 28085900.
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    34. Siu MT, Weksberg R. Epigenetics of Autism Spectrum Disorder. Adv Exp Med Biol. 2017; 978:63-90. PMID: 28523541.
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    35. Grafodatskaya D, Choufani S, Basran R, Weksberg R. An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. J Pediatr Genet. 2017 Mar; 6(1):3-17. PMID: 28180023.
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    36. Samuel N, Wilson G, Lemire M, Id Said B, Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols KE, Finlay JL, Choufani S, Remke M, Ramaswamy V, Cavalli FMG, Elser C, Meister L, Taylor MD, Tabori U, Irwin M, Weksberg R, Wasserman JD, Paterson AD, Hansford JR, Achatz MIW, Hudson TJ, Malkin D. Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. J Clin Oncol. 2016 Oct 20; 34(30):3697-3704. PMID: 27551116.
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    37. 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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    38. 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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    39. Roifman M, Choufani S, Turinsky AL, Drewlo S, Keating S, Brudno M, Kingdom J, Weksberg R. Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction. Clin Epigenetics. 2016; 8:70. PMID: 27330572.
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    40. Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2016 10; 24(10):1377-87. PMID: 27165005.
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    41. Chen J, Yao ZX, Chen JS, Gi YJ, Muñoz NM, Kundra S, Herlong HF, Jeong YS, Goltsov A, Ohshiro K, Mistry NA, Zhang J, Su X, Choufani S, Mitra A, Li S, Mishra B, White J, Rashid A, Wang AY, Javle M, Davila M, Michaely P, Weksberg R, Hofstetter WL, Finegold MJ, Shay JW, Machida K, Tsukamoto H, Mishra L. TGF-ß/ß2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. J Clin Invest. 2016 Feb; 126(2):527-42. PMID: 26784546.
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    42. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    43. Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. NSD1 mutations generate a genome-wide DNA methylation signature. Nat Commun. 2015 Dec 22; 6:10207. PMID: 26690673.
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    44. Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. Am J Med Genet A. 2016 Feb; 170A(2):392-402. PMID: 26545172.
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    45. Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. Eur J Hum Genet. 2016 06; 24(6):784-93. PMID: 26508573.
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    46. 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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    47. Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatr Res. 2015 Dec; 78(6):609-17. PMID: 26309238.
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    48. Hayeems RZ, Babul-Hirji R, Hoang N, Weksberg R, Shuman C. Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling. J Genet Couns. 2016 Apr; 25(2):298-304. PMID: 26259530.
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    49. 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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    50. Roth DE, Gernand AD, Morris SK, Pezzack B, Islam MM, Dimitris MC, Shanta SS, Zlotkin SH, Willan AR, Ahmed T, Shah PS, Murphy KE, Weksberg R, Choufani S, Shah R, Al Mahmud A. Maternal vitamin D supplementation during pregnancy and lactation to promote infant growth in Dhaka, Bangladesh (MDIG trial): study protocol for a randomized controlled trial. Trials. 2015 Jul 14; 16:300. PMID: 26169781.
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    201. Weksberg R, Squire JA, Templeton DM. Glypicans: a growing trend. Nat Genet. 1996 Mar; 12(3):225-7. PMID: 8589707.
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    202. Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996 Feb; 128(2):225-9. PMID: 8636816.
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    203. Squire J, Weksberg R. Genomic imprinting in tumours. Semin Cancer Biol. 1996 Feb; 7(1):41-7. PMID: 8695766.
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    204. Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxová R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet. 1995 Dec; 11(4):459-61. PMID: 7493033.
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    205. Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet. 1995 Nov 20; 59(3):329-33. PMID: 8599356.
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    206. Weksberg R. Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development. Am J Hum Genet. 1995 Nov; 57(5):994-7. PMID: 7485184.
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    207. Rovet J, Krekewich K, Perlman K, Weksberg R, Holland J, Feigenbaum A. Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20. Dev Med Child Neurol. 1995 Jul; 37(7):637-44. PMID: 7542211.
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    208. Macfarlane R, Levin AV, Weksberg R, Blaser S, Rutka JT. Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery. 1995 Jul; 37(1):129-33. PMID: 8587673.
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    209. Sait SN, Nowak NJ, Singh-Kahlon P, Weksberg R, Squire J, Shows TB, Higgins MJ. Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5. Genes Chromosomes Cancer. 1994 Oct; 11(2):97-105. PMID: 7529555.
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    210. Weksberg R. Wiedemann-Beckwith syndrome: genomic imprinting revisited. Am J Med Genet. 1994 Aug 15; 52(2):235-6. PMID: 7802017.
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    211. Chow EW, Bassett AS, Weksberg R. Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet. 1994 Jun 15; 54(2):107-12. PMID: 8074160.
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    212. Scolnik D, Nulman I, Rovet J, Gladstone D, Czuchta D, Gardner HA, Gladstone R, Ashby P, Weksberg R, Einarson T, et al. Neurodevelopment of children exposed in utero to phenytoin and carbamazepine monotherapy. JAMA. 1994 Mar 09; 271(10):767-70. PMID: 7509419.
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    213. Feigenbaum A, Bergeron C, Richardson R, Wherrett J, Robinson B, Weksberg R. Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome? Am J Med Genet. 1994 Jan 01; 49(1):118-24. PMID: 8172238.
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    214. Squire J, Zielenska M, Thorner P, Tennyson S, Weitzman S, Pai KM, Yeger H, Ng YK, Weksberg R. Variant translocations of chromosome 22 in Ewing's sarcoma. Genes Chromosomes Cancer. 1993 Nov; 8(3):190-4. PMID: 7509628.
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    215. Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet. 1993 Oct; 5(2):143-50. PMID: 8252039.
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    216. Coppes MJ, Sohl H, Teshima IE, Mutirangura A, Ledbetter DH, Weksberg R. Wilms tumor in a patient with Prader-Willi syndrome. J Pediatr. 1993 May; 122(5 Pt 1):730-3. PMID: 8388447.
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    217. Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet. 1993 May; 2(5):549-56. PMID: 8518793.
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    218. Coppes MJ, Bonetta L, Huang A, Hoban P, Chilton-MacNeill S, Campbell CE, Weksberg R, Yeger H, Reeve AE, Williams BR. Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination. Genes Chromosomes Cancer. 1992 Nov; 5(4):326-34. PMID: 1283321.
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    219. Graham K, Feigenbaum A, Pastuszak A, Nulman I, Weksberg R, Einarson T, Goldberg S, Ashby S, Koren G. Pregnancy outcome and infant development following gestational cocaine use by social cocaine users in Toronto, Canada. Clin Invest Med. 1992 Aug; 15(4):384-94. PMID: 1516296.
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    220. Eich GF, Silver MM, Weksberg R, Daneman A, Costa T. Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations. Radiology. 1991 Oct; 181(1):183-8. PMID: 1909446.
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    221. Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am J Hum Genet. 1991 Feb; 48(2):305-17. PMID: 1990839.
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    222. Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams BR. Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region. Genomics. 1990 Dec; 8(4):693-8. PMID: 2276740.
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    223. Koren G, Demitrakoudis D, Weksberg R, Rieder M, Shear NH, Sonely M, Shandling B, Spielberg SP. Neuroblastoma after prenatal exposure to phenytoin: cause and effect? Teratology. 1989 Aug; 40(2):157-62. PMID: 2672404.
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    224. Weksberg R, Smith C, Anson-Cartwright L, Maloney K. Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet. 1988 Jun; 42(6):816-24. PMID: 3163468.
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    225. Thakker RV, Read AP, Davies KE, Whyte MP, Weksberg R, Glorieux F, Davies M, Mountford RC, Harris R, King A, et al. Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet. 1987 Dec; 24(12):756-60. PMID: 2828625.
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    226. Willis AE, Weksberg R, Tomlinson S, Lindahl T. Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci U S A. 1987 Nov; 84(22):8016-20. PMID: 3479778.
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    227. Cairney AE, Andrews M, Greenberg M, Smith D, Weksberg R. Wilms tumor in three patients with Bloom syndrome. J Pediatr. 1987 Sep; 111(3):414-6. PMID: 3040954.
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    228. Finegan JA, Quarrington BJ, Hughes HE, Rudd NL, Stevens LJ, Weksberg R, Doran TA. Infant outcome following mid-trimester amniocentesis: development and physical status at age six months. Br J Obstet Gynaecol. 1985 Oct; 92(10):1015-23. PMID: 4052343.
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    229. Finegan JK, Quarrington BJ, Hughes HE, Rudd NL, Stevens LJ, Weksberg R, Doran TA. Midtrimester amniocentesis: obstetric outcome and neonatal neurobehavioral status. Am J Obstet Gynecol. 1984 Dec 15; 150(8):989-97. PMID: 6507537.
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    230. Beheshti M, Churchill BM, Hardy BE, Bailey JD, Weksberg R, Rogan GF. Familial persistent müllerian duct syndrome. J Urol. 1984 May; 131(5):968-9. PMID: 6708239.
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    231. Rudd NL, Teshima IE, Martin RH, Sisken JE, Weksberg R. A dominantly inherited cytogenetic anomaly: a possible cell division mutant. Hum Genet. 1983; 65(2):117-21. PMID: 6654324.
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    232. Weksberg R, Buchwald M, Sargent P, Thompson MW, Siminovitch L. Specific cellular defects in patients with Fanconi anemia. J Cell Physiol. 1979 Nov; 101(2):311-23. PMID: 511954.
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