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Andrew Paterson

TitleSenior Scientist
InstitutionThe Hospital for Sick Children
DepartmentGenetics and Genome Biology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
ORCID ORCID Icon0000-0002-9169-118X Additional info
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    Collapse Biography 
    Collapse education and training
    University of GlasgowMBChB06/1995Medicine

    Collapse Overview 
    Collapse overview
    Much of biomedical research focuses on the identification of etiological factors for common disease. Human genetics provides an unparalleled opportunity to identify causal factors since the DNA sequence stays mostly the same in every cell of humans as they age, and reverse causality is unlikely. Based on the sequence of the human genome, recent advances in technologies have allowed high-throughput genotyping and sequencing to capture the majority of variation in the human genome. This provides an unparalleled opportunity to identify causal genes, pathways and mechanisms for common human diseases and traits. Such knowledge is important since it provides novel opportunities for improvements in screening, prevention and possibly treatments of such diseases, ultimately aimed at reducing the incidence and severity of numerous common diseases. Although the direct benefit may take many years to realise, foundational discoveries from human genetics offer great opportunity for the rationale development of strategies with impact.

    The main focus of my research is understanding the genetic bases of common complex disease, specifically type 1 diabetes and its long term complications. Approximately 1:300 Canadians develop type 1 diabetes during their lifetime, and decades-long hyperglycemia is associated with reduced life expectancy due to complications including hypoglycemia, nephropathy and cardiovascular disease. In addition, although the mechanisms that result in type 2 diabetes appear to be mostly distinct from type 1 diabetes, the complications of nephropathy and cardiovascular disease are also present in people with type 2 diabetes, which has a much higher population prevalence, with 8.3% of the population of Ontario having diabetes in 2010. It is likely that some of the same genetic risk factors for these long-term complications of type 2 diabetes are shared with those for the same complication of type 1 diabetes.

    Part of my time is spent as a co-director of the Statistical Analysis Facility of The Center for Applied Genomics at SickKids (www.tcag.ca/facilities/statisticalAnalysis.html). Work from this has resulted in a numerous publications, describing the mapping and cloning of a number of single gene diseases.


    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.
    List All   |   Timeline
    1. Zhang J, Zhang X, Tang H, Zhang Q, Hua X, Ma X, Zhu F, Jones T, Zhu X, Bowers J, Wai CM, Zheng C, Shi Y, Chen S, Xu X, Yue J, Nelson DR, Huang L, Li Z, Xu H, Zhou D, Wang Y, Hu W, Lin J, Deng Y, Pandey N, Mancini M, Zerpa D, Nguyen JK, Wang L, Yu L, Xin Y, Ge L, Arro J, Han JO, Chakrabarty S, Pushko M, Zhang W, Ma Y, Ma P, Lv M, Chen F, Zheng G, Xu J, Yang Z, Deng F, Chen X, Liao Z, Zhang X, Lin Z, Lin H, Yan H, Kuang Z, Zhong W, Liang P, Wang G, Yuan Y, Shi J, Hou J, Lin J, Jin J, Cao P, Shen Q, Jiang Q, Zhou P, Ma Y, Zhang X, Xu R, Liu J, Zhou Y, Jia H, Ma Q, Qi R, Zhang Z, Fang J, Fang H, Song J, Wang M, Dong G, Wang G, Chen Z, Ma T, Liu H, Dhungana SR, Huss SE, Yang X, Sharma A, Trujillo JH, Martinez MC, Hudson M, Riascos JJ, Schuler M, Chen LQ, Braun DM, Li L, Yu Q, Wang J, Wang K, Schatz MC, Heckerman D, Van Sluys MA, Souza GM, Moore PH, Sankoff D, VanBuren R, Paterson AH, Nagai C, Ming R. Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L. Nat Genet. 2018 Dec; 50(12):1754. PMID: 30425353.
      View in: PubMed
    2. Pollack S, Igo RP, Jensen RA, Christiansen M, Li X, Cheng CY, Ng MCY, Smith AV, Rossin EJ, Segrè AV, Davoudi S, Tan GS, Ida Chen YD, Kuo JZ, Dimitrov LM, Stanwyck LK, Meng W, Hosseini SM, Imamura M, Nousome D, Kim J, Hai Y, Jia Y, Ahn J, Leong A, Shah K, Park KH, Guo X, Ipp E, Taylor KD, Adler SG, Sedor JR, Freedman BI, Lee IT, H-H Sheu W, Kubo M, Takahashi A, Hadjadj S, Marre M, Tregouet DA, Mckean-Cowdin R, Varma R, McCarthy MI, Groop L, Ahlqvist E, Lyssenko V, Agardh E, Morris A, Doney ASF, Colhoun HM, Toppila I, Sandholm N, Groop PH, Maeda S, Hanis CL, Penman A, Chen CJ, Hancock H, Mitchell P, Craig JE, Chew EY, Paterson AD, Grassi MA, Palmer C, Bowden DW, Yaspan BL, Siscovick D, Cotch MF, Wang JJ, Burdon KP, Wong TY, Klein BEK, Klein R, Rotter JI, Iyengar SK, Price A, Sobrin L. Multiethnic Genome-wide Association Study of Diabetic Retinopathy using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes. 2018 Nov 28. PMID: 30487263.
      View in: PubMed
    3. van Waateringe RP, Fokkens BT, Slagter SN, van der Klauw MM, van Vliet-Ostaptchouk JV, Graaff R, Paterson AD, Smit AJ, Lutgers HL, Wolffenbuttel BHR. Skin autofluorescence predicts incident type 2 diabetes, cardiovascular disease and mortality in the general population. Diabetologia. 2018 Nov 21. PMID: 30460578.
      View in: PubMed
    4. Zhang J, Zhang X, Tang H, Zhang Q, Hua X, Ma X, Zhu F, Jones T, Zhu X, Bowers J, Wai CM, Zheng C, Shi Y, Chen S, Xu X, Yue J, Nelson DR, Huang L, Li Z, Xu H, Zhou D, Wang Y, Hu W, Lin J, Deng Y, Pandey N, Mancini M, Zerpa D, Nguyen JK, Wang L, Yu L, Xin Y, Ge L, Arro J, Han JO, Chakrabarty S, Pushko M, Zhang W, Ma Y, Ma P, Lv M, Chen F, Zheng G, Xu J, Yang Z, Deng F, Chen X, Liao Z, Zhang X, Lin Z, Lin H, Yan H, Kuang Z, Zhong W, Liang P, Wang G, Yuan Y, Shi J, Hou J, Lin J, Jin J, Cao P, Shen Q, Jiang Q, Zhou P, Ma Y, Zhang X, Xu R, Liu J, Zhou Y, Jia H, Ma Q, Qi R, Zhang Z, Fang J, Fang H, Song J, Wang M, Dong G, Wang G, Chen Z, Ma T, Liu H, Dhungana SR, Huss SE, Yang X, Sharma A, Trujillo JH, Martinez MC, Hudson M, Riascos JJ, Schuler M, Chen LQ, Braun DM, Li L, Yu Q, Wang J, Wang K, Schatz MC, Heckerman D, Van Sluys MA, Souza GM, Moore PH, Sankoff D, VanBuren R, Paterson AH, Nagai C, Ming R. Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L. Nat Genet. 2018 Nov; 50(11):1565-1573. PMID: 30297971.
      View in: PubMed
    5. Stahel P, Sud SK, Lee SJ, Jackson T, Urbach DR, Okrainec A, Allard JP, Bassett AS, Paterson AD, Sockalingam S, Dash S. Phenotypic and genetic analysis of an adult cohort with extreme obesity. Int J Obes (Lond). 2018 Sep 21. PMID: 30242240.
      View in: PubMed
    6. Canty AJ, Paterson AD. Evidence of batch effects masking treatment effect in GAW20 methylation data. BMC Proc. 2018; 12(Suppl 9):32. PMID: 30275884.
      View in: PubMed
    7. Lanktree MB, Haghighi A, Guiard E, Iliuta IA, Song X, Harris PC, Paterson AD, Pei Y. Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. J Am Soc Nephrol. 2018 Oct; 29(10):2593-2600. PMID: 30135240.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. Wang J, Kurilshikov A, Radjabzadeh D, Turpin W, Croitoru K, Bonder MJ, Jackson MA, Medina-Gomez C, Frost F, Homuth G, Rühlemann M, Hughes D, Kim HN, Spector TD, Bell JT, Steves CJ, Timpson N, Franke A, Wijmenga C, Meyer K, Kacprowski T, Franke L, Paterson AD, Raes J, Kraaij R, Zhernakova A. Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative. Microbiome. 2018 06 08; 6(1):101. PMID: 29880062.
      View in: PubMed
    10. Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nat Genet. 2018 Jun; 50(6):834-848. PMID: 29808027.
      View in: PubMed
    11. van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V, Perna A, Rurali E, Marcovecchio ML, Igo RP, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN, Ang SF, Dorajoo R, Wang L, Clara TSH, McKnight AJ, Duffy S, Pezzolesi MG, Marre M, Gyorgy B, Hadjadj S, Hiraki LT, Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzzi G, Brosnan MJ, Palmer CNA, Groop PH, Colhoun HM, Groop LC, McCarthy MI. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Diabetes. 2018 07; 67(7):1414-1427. PMID: 29703844.
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    12. Turpin W, Bedrani L, Espin-Garcia O, Xu W, Silverberg MS, Smith MI, Guttman DS, Griffiths A, Moayyedi P, Panaccione R, Huynh H, Steinhart H, Aumais G, Shestopaloff K, Dieleman LA, Turner D, Paterson AD, Croitoru K. FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects. Gut Microbes. 2018 07 04; 9(4):357-368. PMID: 29533703.
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    13. Charmet R, Duffy S, Keshavarzi S, Gyorgy B, Marre M, Rossing P, McKnight AJ, Maxwell AP, Ahluwalia TVS, Paterson AD, Trégouët DA, Hadjadj S. Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes. Cardiovasc Diabetol. 2018 04 25; 17(1):61. PMID: 29695241.
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    14. Boyd N, Berman H, Zhu J, Martin LJ, Yaffe MJ, Chavez S, Stanisz G, Hislop G, Chiarelli AM, Minkin S, Paterson AD. The origins of breast cancer associated with mammographic density: a testable biological hypothesis. Breast Cancer Res. 2018 03 07; 20(1):17. PMID: 29514672.
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    15. Chandnani R, Kim C, Guo H, Shehzad T, Wallace JG, He D, Zhang Z, Patel JD, Adhikari J, Khanal S, Paterson AH. Genetic Analysis of Gossypium Fiber Quality Traits in Reciprocal Advanced Backcross Populations. Plant Genome. 2018 03; 11(1). PMID: 29505644.
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    16. Roshandel D, Gubitosi-Klug R, Bull SB, Canty AJ, Pezzolesi MG, King GL, Keenan HA, Snell-Bergeon JK, Maahs DM, Klein R, Klein BEK, Orchard TJ, Costacou T, Weedon MN, Oram RA, Paterson AD. Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes. Diabetologia. 2018 05; 61(5):1098-1111. PMID: 29404672.
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    17. Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y. X-Linked Glomerulopathy Due to COL4A5 Founder Variant. Am J Kidney Dis. 2018 Mar; 71(3):441-445. PMID: 29198386.
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    18. de Boer IH, Gao X, Bebu I, Hoofnagle AN, Lachin JM, Paterson A, Perkins BA, Saenger AK, Steffes MW, Zinman B, Molitch ME. Biomarkers of tubulointerstitial damage and function in type 1 diabetes. BMJ Open Diabetes Res Care. 2017; 5(1):e000461. PMID: 29177052.
      View in: PubMed
    19. Paterson AD. HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW! PLoS Med. 2017 Sep; 14(9):e1002384. PMID: 28898251.
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    20. Schouwenberg BJ, Coenen MJ, Paterson AD, Tack CJ, Smits P, Kramers C, de Galan BE. Genetic determinants of impaired awareness of hypoglycemia in type 1 diabetes. Pharmacogenet Genomics. 2017 Sep; 27(9):323-328. PMID: 28692628.
      View in: PubMed
    21. van Waateringe RP, Slagter SN, van Beek AP, van der Klauw MM, van Vliet-Ostaptchouk JV, Graaff R, Paterson AD, Lutgers HL, Wolffenbuttel BHR. Skin autofluorescence, a non-invasive biomarker for advanced glycation end products, is associated with the metabolic syndrome and its individual components. Diabetol Metab Syndr. 2017; 9:42. PMID: 28572855.
      View in: PubMed
    22. Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, Song X, Heyer CM, Senum SR, Hwang YH, Paterson AD, Harris PC, Khalili K, Pei Y. Polycystic Kidney Disease without an Apparent Family History. J Am Soc Nephrol. 2017 Sep; 28(9):2768-2776. PMID: 28522688.
      View in: PubMed
    23. Hayward CP, Liang M, Tasneem S, Soomro A, Waye JS, Paterson AD, Rivard GE, Wilson MD. The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. PLoS One. 2017; 12(3):e0173991. PMID: 28301587.
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    24. Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO. Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. Invest Ophthalmol Vis Sci. 2017 03 01; 58(3):1736-1742. PMID: 28324114.
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    25. Woodbury-Smith M, Bilder DA, Morgan J, Jerominski L, Darlington T, Dyer T, Paterson AD, Coon H. Combined genome-wide linkage and targeted association analysis of head circumference in autism spectrum disorder families. J Neurodev Disord. 2017; 9:5. PMID: 28289475.
      View in: PubMed
    26. Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM. Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation. Haemophilia. 2017 May; 23(3):e204-e213. PMID: 28181366.
      View in: PubMed
    27. Xu L, Paterson AD, Xu W. Bayesian latent variable models for hierarchical clustered count outcomes with repeated measures in microbiome studies. Genet Epidemiol. 2017 Apr; 41(3):221-232. PMID: 28111783.
      View in: PubMed
    28. Xu W, Ma J, Greenwood CMT, Paterson AD, Bull SB. Model-Free Linkage Analysis of a Binary Trait. Methods Mol Biol. 2017; 1666:343-373. PMID: 28980254.
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    29. Robinson-Cohen C, Lutsey PL, Kleber ME, Nielson CM, Mitchell BD, Bis JC, Eny KM, Portas L, Eriksson J, Lorentzon M, Koller DL, Milaneschi Y, Teumer A, Pilz S, Nethander M, Selvin E, Tang W, Weng LC, Wong HS, Lai D, Peacock M, Hannemann A, Völker U, Homuth G, Nauk M, Murgia F, Pattee JW, Orwoll E, Zmuda JM, Riancho JA, Wolf M, Williams F, Penninx B, Econs MJ, Ryan KA, Ohlsson C, Paterson AD, Psaty BM, Siscovick DS, Rotter JI, Pirastu M, Streeten E, März W, Fox C, Coresh J, Wallaschofski H, Pankow JS, de Boer IH, Kestenbaum B. Genetic Variants Associated with Circulating Parathyroid Hormone. J Am Soc Nephrol. 2017 May; 28(5):1553-1565. PMID: 27927781.
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    30. Yoo YJ, Sun L, Poirier JG, Paterson AD, Bull SB. Multiple linear combination (MLC) regression tests for common variants adapted to linkage disequilibrium structure. Genet Epidemiol. 2017 Feb; 41(2):108-121. PMID: 27885705.
      View in: PubMed
    31. de Boer IH, Gao X, Cleary PA, Bebu I, Lachin JM, Molitch ME, Orchard T, Paterson AD, Perkins BA, Steffes MW, Zinman B. Albuminuria Changes and Cardiovascular and Renal Outcomes in Type 1 Diabetes: The DCCT/EDIC Study. Clin J Am Soc Nephrol. 2016 11 07; 11(11):1969-1977. PMID: 27797889.
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    32. 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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    33. Gallaugher M, Canty AJ, Paterson AD. Factors associated with heterogeneity in microarray gene expression in peripheral blood mononuclear cells from large pedigrees. BMC Proc. 2016; 10(Suppl 7):91-95. PMID: 27980617.
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    34. Liu XQ, Fazio J, Hu P, Paterson AD. Identity-by-descent mapping for diastolic blood pressure in unrelated Mexican Americans. BMC Proc. 2016; 10(Suppl 7):263-267. PMID: 27980647.
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    35. Turpin W, Espin-Garcia O, Xu W, Silverberg MS, Kevans D, Smith MI, Guttman DS, Griffiths A, Panaccione R, Otley A, Xu L, Shestopaloff K, Moreno-Hagelsieb G, Paterson AD, Croitoru K. Association of host genome with intestinal microbial composition in a large healthy cohort. Nat Genet. 2016 11; 48(11):1413-1417. PMID: 27694960.
      View in: PubMed
    36. Sandholm N, Van Zuydam N, Ahlqvist E, Juliusdottir T, Deshmukh HA, Rayner NW, Di Camillo B, Forsblom C, Fadista J, Ziemek D, Salem RM, Hiraki LT, Pezzolesi M, Trégouët D, Dahlström E, Valo E, Oskolkov N, Ladenvall C, Marcovecchio ML, Cooper J, Sambo F, Malovini A, Manfrini M, McKnight AJ, Lajer M, Harjutsalo V, Gordin D, Parkkonen M, Tuomilehto J, Lyssenko V, McKeigue PM, Rich SS, Brosnan MJ, Fauman E, Bellazzi R, Rossing P, Hadjadj S, Krolewski A, Paterson AD, Florez JC, Hirschhorn JN, Maxwell AP, Dunger D, Cobelli C, Colhoun HM, Groop L, McCarthy MI, Groop PH. The Genetic Landscape of Renal Complications in Type 1 Diabetes. J Am Soc Nephrol. 2017 02; 28(2):557-574. PMID: 27647854.
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    37. Grassi MA, Rao VR, Chen S, Cao D, Gao X, Cleary PA, Huang RS, Paterson AD, Natarajan R, Rehman J, Kern TS. Lymphoblastoid Cell Lines as a Tool to Study Inter-Individual Differences in the Response to Glucose. PLoS One. 2016; 11(8):e0160504. PMID: 27509144.
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    38. Fan Q, Guo X, Tideman JW, Williams KM, Yazar S, Hosseini SM, Howe LD, Pourcain BS, Evans DM, Timpson NJ, McMahon G, Hysi PG, Krapohl E, Wang YX, Jonas JB, Baird PN, Wang JJ, Cheng CY, Teo YY, Wong TY, Ding X, Wojciechowski R, Young TL, Pärssinen O, Oexle K, Pfeiffer N, Bailey-Wilson JE, Paterson AD, Klaver CC, Plomin R, Hammond CJ, Mackey DA, He M, Saw SM, Williams C, Guggenheim JA. Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Sci Rep. 2016 05 13; 6:25853. PMID: 27174397.
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    39. Xu L, Craiu RV, Sun L, Paterson AD. Parameter Expanded Algorithms for Bayesian Latent Variable Modeling of Genetic Pleiotropy Data. J Comput Graph Stat. 2016; 25(2):405-425. PMID: 27752219.
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    40. Chen Z, Miao F, Paterson AD, Lachin JM, Zhang L, Schones DE, Wu X, Wang J, Tompkins JD, Genuth S, Braffett BH, Riggs AD, Natarajan R. Epigenomic profiling reveals an association between persistence of DNA methylation and metabolic memory in the DCCT/EDIC type 1 diabetes cohort. Proc Natl Acad Sci U S A. 2016 May 24; 113(21):E3002-11. PMID: 27162351.
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    41. van Waateringe RP, Slagter SN, van der Klauw MM, van Vliet-Ostaptchouk JV, Graaff R, Paterson AD, Lutgers HL, Wolffenbuttel BH. Lifestyle and clinical determinants of skin autofluorescence in a population-based cohort study. Eur J Clin Invest. 2016 May; 46(5):481-90. PMID: 27002914.
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    42. Roshandel D, Klein R, Klein BE, Wolffenbuttel BH, van der Klauw MM, van Vliet-Ostaptchouk JV, Atzmon G, Ben-Avraham D, Crandall JP, Barzilai N, Bull SB, Canty AJ, Hosseini SM, Hiraki LT, Maynard J, Sell DR, Monnier VM, Cleary PA, Braffett BH, Paterson AD. New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins. Diabetes. 2016 07; 65(7):2060-71. PMID: 27207532; PMCID: PMC4915582 [Available on 07/01/17].
    43. Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T, Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 2016 Mar 29; 7:11008. PMID: 27020472.
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    44. Sung L, Dix D, Cellot S, Gillmeister B, Ethier MC, Roslin NM, Johnston DL, Feusner J, Mitchell D, Lewis V, Aplenc R, Yanofsky R, Portwine C, Price V, Zelcer S, Silva M, Bowes L, Michon B, Stobart K, Traubici J, Allen U, Beyene J, den Hollander N, Paterson AD. Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia. Clin Microbiol Infect. 2016 Jun; 22(6):563.e9-563.e17. PMID: 26932518.
      View in: PubMed
    45. Porta M, Toppila I, Sandholm N, Hosseini SM, Forsblom C, Hietala K, Borio L, Harjutsalo V, Klein BE, Klein R, Paterson AD, Groop PH. Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes. Diabetes. 2016 04; 65(4):1022-30. PMID: 26718501; PMCID: PMC4806664 [Available on 04/01/17].
    46. Teumer A, Tin A, Sorice R, Gorski M, Yeo NC, Chu AY, Li M, Li Y, Mijatovic V, Ko YA, Taliun D, Luciani A, Chen MH, Yang Q, Foster MC, Olden M, Hiraki LT, Tayo BO, Fuchsberger C, Dieffenbach AK, Shuldiner AR, Smith AV, Zappa AM, Lupo A, Kollerits B, Ponte B, Stengel B, Krämer BK, Paulweber B, Mitchell BD, Hayward C, Helmer C, Meisinger C, Gieger C, Shaffer CM, Müller C, Langenberg C, Ackermann D, Siscovick D, Boerwinkle E, Kronenberg F, Ehret GB, Homuth G, Waeber G, Navis G, Gambaro G, Malerba G, Eiriksdottir G, Li G, Wichmann HE, Grallert H, Wallaschofski H, Völzke H, Brenner H, Kramer H, Mateo Leach I, Rudan I, Hillege HL, Beckmann JS, Lambert JC, Luan J, Zhao JH, Chalmers J, Coresh J, Denny JC, Butterbach K, Launer LJ, Ferrucci L, Kedenko L, Haun M, Metzger M, Woodward M, Hoffman MJ, Nauck M, Waldenberger M, Pruijm M, Bochud M, Rheinberger M, Verweij N, Wareham NJ, Endlich N, Soranzo N, Polasek O, van der Harst P, Pramstaller PP, Vollenweider P, Wild PS, Gansevoort RT, Rettig R, Biffar R, Carroll RJ, Katz R, Loos RJ, Hwang SJ, Coassin S, Bergmann S, Rosas SE, Stracke S, Harris TB, Corre T, Zeller T, Illig T, Aspelund T, Tanaka T, Lendeckel U, Völker U, Gudnason V, Chouraki V, Koenig W, Kutalik Z, O'Connell JR, Parsa A, Heid IM, Paterson AD, de Boer IH, Devuyst O, Lazar J, Endlich K, Susztak K, Tremblay J, Hamet P, Jacob HJ, Böger CA, Fox CS, Pattaro C, Köttgen A. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. Diabetes. 2016 Mar; 65(3):803-17. PMID: 26631737.
      View in: PubMed
    47. Kevans D, Silverberg MS, Borowski K, Griffiths A, Xu W, Onay V, Paterson AD, Knight J, Croitoru K. IBD Genetic Risk Profile in Healthy First-Degree Relatives of Crohn's Disease Patients. J Crohns Colitis. 2016 Feb; 10(2):209-15. PMID: 26512135; PMCID: PMC5007582 [Available on 02/01/17].
    48. Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 06; 27(6):1861-8. PMID: 26453610.
      View in: PubMed
    49. Poirier JG, Faye LL, Dimitromanolakis A, Paterson AD, Sun L, Bull SB. Resampling to Address the Winner's Curse in Genetic Association Analysis of Time to Event. Genet Epidemiol. 2015 Nov; 39(7):518-28. PMID: 26411674.
      View in: PubMed
    50. Day GS, Prüss H, Benseler SM, Paton TA, Paterson AD, Andrade DM. GRIN1 polymorphisms do not affect susceptibility or phenotype in NMDA receptor encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e153. PMID: 26443875; PMCID: PMC4582904.
    51. Lindström S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C, Stone J, Douglas JA, Dos-Santos-Silva I, Fernandez-Navarro P, Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJ, Heit JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, deAndrade M, Vierkant RA, Czene K, Fasching PA, Baglietto L, Southey MC, Giles GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A, Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL, Hall P, Easton DF, Boyd NF, Vachon CM, Tamimi RM. Corrigendum: genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nat Commun. 2015 Sep 09; 6:8358. PMID: 26349435.
      View in: PubMed
    52. Klein R, Myers CE, Lee KE, Paterson AD, Cruickshanks KJ, Tsai MY, Gangnon RE, Klein BE. Oxidized Low-Density Lipoprotein and the Incidence of Proliferative Diabetic Retinopathy and Clinically Significant Macular Edema Determined From Fundus Photographs. JAMA Ophthalmol. 2015 Sep; 133(9):1054-61. PMID: 26181138; PMCID: PMC4578718.
    53. Eny KM, Orchard TJ, Miller RG, Maynard J, Grant DM, Costacou T, Cleary PA, Braffett BH, Paterson AD. Caffeine Consumption Contributes to Skin Intrinsic Fluorescence in Type 1 Diabetes. Diabetes Technol Ther. 2015 Oct; 17(10):726-34. PMID: 26192006; PMCID: PMC4575521.
    54. Xu L, Paterson AD, Turpin W, Xu W. Assessment and Selection of Competing Models for Zero-Inflated Microbiome Data. PLoS One. 2015; 10(7):e0129606. PMID: 26148172; PMCID: PMC4493133.
    55. Soave D, Corvol H, Panjwani N, Gong J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L. A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways. Am J Hum Genet. 2015 Jul 02; 97(1):125-38. PMID: 26140448; PMCID: PMC4572492.
    56. Gagliano SA, Paterson AD, Weale ME, Knight J. Assessing models for genetic prediction of complex traits: a comparison of visualization and quantitative methods. BMC Genomics. 2015 May 22; 16:405. PMID: 25997848; PMCID: PMC4440290.
    57. Kevans D, Turpin W, Madsen K, Meddings J, Shestopaloff K, Xu W, Moreno-Hagelsieb G, Griffiths A, Silverberg MS, Paterson A, Croitoru K. Determinants of intestinal permeability in healthy first-degree relatives of individuals with Crohn's disease. Inflamm Bowel Dis. 2015 04; 21(4):879-87. PMID: 25734694.
      View in: PubMed
    58. 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; PMCID: PMC4542620.
    59. Sarmiento J, Wallis RH, Ning T, Marandi L, Chao G, Veillette A, Lernmark Å, Paterson AD, Poussier P. A functional polymorphism of Ptpn22 is associated with type 1 diabetes in the BioBreeding rat. J Immunol. 2015 Jan 15; 194(2):615-29. PMID: 25505293.
      View in: PubMed
    60. Hosseini SM, Boright AP, Sun L, Canty AJ, Bull SB, Klein BE, Klein R, Paterson AD. The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy. Hum Genet. 2015 Feb; 134(2):247-57. PMID: 25487307; PMCID: PMC4291513.
    61. 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.
      View in: PubMed
    62. 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; PMCID: PMC4759095.
    63. Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimäki T, Kähönen M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Hum Genet. 2015 Feb; 134(2):131-46. PMID: 25367360.
      View in: PubMed
    64. Lindström S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C, Stone J, Douglas JA, dos-Santos-Silva I, Fernandez-Navarro P, Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJ, Heit JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, deAndrade M, Vierkant RA, Czene K, Fasching PA, Baglietto L, Southey MC, Giles GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A, Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL, Hall P, Easton DF, Boyd NF, Vachon CM, Tamimi RM. Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nat Commun. 2014 Oct 24; 5:5303. PMID: 25342443; PMCID: PMC4320806.
    65. Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, Héon E. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014 Dec; 51(12):797-805. PMID: 25293953.
      View in: PubMed
    66. Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, Li X, Verhoeven VJ, Vitart V, Schache M, Hosseini SM, Hysi PG, Raffel LJ, Cotch MF, Chew E, Klein BE, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Fossarello M, Wang JJ, Polašek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Döring A, Bettecken T, Bencic G, Gieger C, Wichmann HE, Wilson JF, Venturini C, Fleck B, Cumberland PM, Rahi JS, Hammond CJ, Hayward C, Wright AF, Paterson AD, Baird PN, Klaver CC, Rotter JI, Pirastu M, Meitinger T, Bailey-Wilson JE, Stambolian D. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. PLoS One. 2014; 9(9):e107110. PMID: 25233373.
      View in: PubMed
    67. Paterson AD. Drinking from the Holy Grail: analysis of whole-genome sequencing from the Genetic Analysis Workshop 18. Genet Epidemiol. 2014 Sep; 38 Suppl 1:S1-4. PMID: 25112182.
      View in: PubMed
    68. 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; PMCID: PMC4124521.
    69. Eny KM, Lutgers HL, Maynard J, Klein BE, Lee KE, Atzmon G, Monnier VM, van Vliet-Ostaptchouk JV, Graaff R, van der Harst P, Snieder H, van der Klauw MM, Sell DR, Hosseini SM, Cleary PA, Braffett BH, Orchard TJ, Lyons TJ, Howard K, Klein R, Crandall JP, Barzilai N, Milman S, Ben-Avraham D, Wolffenbuttel BH, Paterson AD. GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence. Diabetologia. 2014 Aug; 57(8):1623-34. PMID: 24934506; PMCID: PMC4079945.
    70. Hu P, Paterson AD. Dynamic pathway analysis of genes associated with blood pressure using whole genome sequence data. BMC Proc. 2014; 8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S106. PMID: 25519360; PMCID: PMC4143637.
    71. Nalpathamkalam T, Derkach A, Paterson AD, Merico D. Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation. BMC Proc. 2014; 8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S11. PMID: 25519362; PMCID: PMC4143669.
    72. Xu L, Craiu RV, Derkach A, Paterson AD, Sun L. Using a Bayesian latent variable approach to detect pleiotropy in the Genetic Analysis Workshop 18 data. BMC Proc. 2014; 8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S77. PMID: 25519405; PMCID: PMC4143687.
    73. Derkach A, Lawless JF, Merico D, Paterson AD, Sun L. Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data. BMC Proc. 2014; 8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S9. PMID: 25519417; PMCID: PMC4143759.
    74. 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; PMCID: PMC4155505.
    75. Sarmiento J, Wallis RH, Ning T, Marandi L, Chao GY, Paterson AD, Poussier P. Genetic dissection of Iddm26 in the spontaneously diabetic BBDP rat. Genes Immun. 2014 Sep; 15(6):378-91. PMID: 24920533.
      View in: PubMed
    76. 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.
      View in: PubMed
    77. Chao GY, Wallis RH, Marandi L, Ning T, Sarmiento J, Paterson AD, Poussier P. Iddm30 controls pancreatic expression of Ccl11 (Eotaxin) and the Th1/Th2 balance within the insulitic lesions. J Immunol. 2014 Apr 15; 192(8):3645-53. PMID: 24646746.
      View in: PubMed
    78. Sandholm N, Forsblom C, Mäkinen VP, McKnight AJ, Osterholm AM, He B, Harjutsalo V, Lithovius R, Gordin D, Parkkonen M, Saraheimo M, Thorn LM, Tolonen N, Wadén J, Tuomilehto J, Lajer M, Ahlqvist E, Möllsten A, Marcovecchio ML, Cooper J, Dunger D, Paterson AD, Zerbini G, Groop L, Tarnow L, Maxwell AP, Tryggvason K, Groop PH. Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes. Diabetologia. 2014 Jun; 57(6):1143-53. PMID: 24595857.
      View in: PubMed
    79. Miao F, Chen Z, Genuth S, Paterson A, Zhang L, Wu X, Li SM, Cleary P, Riggs A, Harlan DM, Lorenzi G, Kolterman O, Sun W, Lachin JM, Natarajan R. Evaluating the role of epigenetic histone modifications in the metabolic memory of type 1 diabetes. Diabetes. 2014 May; 63(5):1748-62. PMID: 24458354; PMCID: PMC3994951.
    80. 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; PMCID: PMC3990173.
    81. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec; 123(12):5179-89. PMID: 24270420; PMCID: PMC3859425.
    82. Mirea L, Yang J, Paterson AD, Shah V, Bassil KL, Lee SK, Shah PS. Relationship of mode of conception and sex concordance with mortality/morbidity in preterm twins. Twin Res Hum Genet. 2013 Oct; 16(5):985-93. PMID: 23985382.
      View in: PubMed
    83. Duku E, Szatmari P, Vaillancourt T, Georgiades S, Thompson A, Liu XQ, Paterson AD, Bennett T. Measurement equivalence of the autism symptom phenotype in children and youth. J Child Psychol Psychiatry. 2013 Dec; 54(12):1346-55. PMID: 24033275.
      View in: PubMed
    84. Paterson AD. Letter to the editor: expression of concern, reaffirmed. Age (Dordr). 2014 Feb; 36(1):479-82. PMID: 23975717; PMCID: PMC3889910.
    85. Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94. PMID: 23933821.
      View in: PubMed
    86. Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP, Lass JH, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM, Baird PN. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet. 2013 Aug 08; 93(2):264-77. PMID: 24144296.
      View in: PubMed
    87. Levy NS, Vardi M, Blum S, Miller-Lotan R, Afinbinder Y, Cleary PA, Paterson AD, Bharaj B, Snell-Bergeon JK, Rewers MJ, Lache O, Levy AP. An enzyme linked immunosorbent assay (ELISA) for the determination of the human haptoglobin phenotype. Clin Chem Lab Med. 2013 Aug; 51(8):1615-22. PMID: 23492570; PMCID: PMC3717392.
    88. Orchard TJ, Sun W, Cleary PA, Genuth SM, Lachin JM, McGee P, Paterson AD, Raskin P, Anbinder Y, Levy AP. Haptoglobin genotype and the rate of renal function decline in the diabetes control and complications trial/epidemiology of diabetes interventions and complications study. Diabetes. 2013 Sep; 62(9):3218-23. PMID: 23761102; PMCID: PMC3749329.
    89. Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF. Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry. Breast Cancer Res. 2013 May 25; 15(3):R43. PMID: 23705888; PMCID: PMC3706877.
    90. Crosbie J, Arnold P, Paterson A, Swanson J, Dupuis A, Li X, Shan J, Goodale T, Tam C, Strug LJ, Schachar RJ. Response inhibition and ADHD traits: correlates and heritability in a community sample. J Abnorm Child Psychol. 2013 Apr; 41(3):497-507. PMID: 23315233; PMCID: PMC3600128.
    91. Rydz N, Swystun LL, Notley C, Paterson AD, Riches JJ, Sponagle K, Boonyawat B, Montgomery RR, James PD, Lillicrap D. The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels. Blood. 2013 Jun 27; 121(26):5228-37. PMID: 23529928; PMCID: PMC3722568.
    92. Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E, Viswanathan AC, Hayward C, Wright AF, Polasek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Hum Mol Genet. 2013 Jul 01; 22(13):2754-64. PMID: 23474815.
      View in: PubMed
    93. Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Janmahasathian S, Igo RP, Lass JH, Chew E, Iyengar SK, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. 2013 Mar; 45(3):314-8. PMID: 23396134.
      View in: PubMed
    94. Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. Am J Hum Genet. 2013 Feb 07; 92(2):252-8. PMID: 23290074; PMCID: PMC3567275.
    95. Sandholm N, Salem RM, McKnight AJ, Brennan EP, Forsblom C, Isakova T, McKay GJ, Williams WW, Sadlier DM, Mäkinen VP, Swan EJ, Palmer C, Boright AP, Ahlqvist E, Deshmukh HA, Keller BJ, Huang H, Ahola AJ, Fagerholm E, Gordin D, Harjutsalo V, He B, Heikkilä O, Hietala K, Kytö J, Lahermo P, Lehto M, Lithovius R, Osterholm AM, Parkkonen M, Pitkäniemi J, Rosengård-Bärlund M, Saraheimo M, Sarti C, Söderlund J, Soro-Paavonen A, Syreeni A, Thorn LM, Tikkanen H, Tolonen N, Tryggvason K, Tuomilehto J, Wadén J, Gill GV, Prior S, Guiducci C, Mirel DB, Taylor A, Hosseini SM, Parving HH, Rossing P, Tarnow L, Ladenvall C, Alhenc-Gelas F, Lefebvre P, Rigalleau V, Roussel R, Tregouet DA, Maestroni A, Maestroni S, Falhammar H, Gu T, Möllsten A, Cimponeriu D, Ioana M, Mota M, Mota E, Serafinceanu C, Stavarachi M, Hanson RL, Nelson RG, Kretzler M, Colhoun HM, Panduru NM, Gu HF, Brismar K, Zerbini G, Hadjadj S, Marre M, Groop L, Lajer M, Bull SB, Waggott D, Paterson AD, Savage DA, Bain SC, Martin F, Hirschhorn JN, Godson C, Florez JC, Groop PH, Maxwell AP. New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genet. 2012 Sep; 8(9):e1002921. PMID: 23028342; PMCID: PMC3447939.
    96. 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.
      View in: PubMed
    97. Paterson AD, Bull SB. Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that act independently? J Cardiovasc Transl Res. 2012 Aug; 5(4):388-98. PMID: 22729868.
      View in: PubMed
    98. Hotaling JM, Waggott DR, Goldberg J, Jarvik G, Paterson AD, Cleary PA, Lachin J, Sarma A, Wessells H. Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort. J Urol. 2012 Aug; 188(2):514-20. PMID: 22704111.
      View in: PubMed
    99. van Koolwijk LM, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, Viswanathan AC, ten Brink JB, Hosseini SM, Amin N, Despriet DD, Willemse-Assink JJ, Kramer R, Rivadeneira F, Struchalin M, Aulchenko YS, Weisschuh N, Zenkel M, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young TL, Bellenguez C, McGuffin P, Foster PJ, Topouzis F, Mitchell P, Wang JJ, Wong TY, Czudowska MA, Hofman A, Uitterlinden AG, Wolfs RC, de Jong PT, Oostra BA, Paterson AD, Mackey DA, Bergen AA, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CC, van Duijn CM. Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet. 2012; 8(5):e1002611. PMID: 22570627.
      View in: PubMed
    100. Stevens KN, Lindstrom S, Scott CG, Thompson D, Sellers TA, Wang X, Wang A, Atkinson E, Rider DN, Eckel-Passow JE, Varghese JS, Audley T, Brown J, Leyland J, Luben RN, Warren RM, Loos RJ, Wareham NJ, Li J, Hall P, Liu J, Eriksson L, Czene K, Olson JE, Pankratz VS, Fredericksen Z, Diasio RB, Lee AM, Heit JA, DeAndrade M, Goode EL, Vierkant RA, Cunningham JM, Armasu SM, Weinshilboum R, Fridley BL, Batzler A, Ingle JN, Boyd NF, Paterson AD, Rommens J, Martin LJ, Hopper JL, Southey MC, Stone J, Apicella C, Kraft P, Hankinson SE, Hazra A, Hunter DJ, Easton DF, Couch FJ, Tamimi RM, Vachon CM. Identification of a novel percent mammographic density locus at 12q24. Hum Mol Genet. 2012 Jul 15; 21(14):3299-305. PMID: 22532574; PMCID: PMC3384385.
    101. Paterson AD. Expression of concern re: Kulminski, A. 2011. Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. Experimental Gerontology. DOI: 10.1016/j.exger.2011.08.010. Exp Gerontol. 2012 06; 47(6):479-80; author reply 481-2. PMID: 22465810.
      View in: PubMed
    102. Murji A, Proctor LK, Paterson AD, Chitayat D, Weksberg R, Kingdom J. Male sex bias in placental dysfunction. Am J Med Genet A. 2012 Apr; 158A(4):779-83. PMID: 22407866.
      View in: PubMed
    103. Varghese JS, Thompson DJ, Michailidou K, Lindström S, Turnbull C, Brown J, Leyland J, Warren RM, Luben RN, Loos RJ, Wareham NJ, Rommens J, Paterson AD, Martin LJ, Vachon CM, Scott CG, Atkinson EJ, Couch FJ, Apicella C, Southey MC, Stone J, Li J, Eriksson L, Czene K, Boyd NF, Hall P, Hopper JL, Tamimi RM, Rahman N, Easton DF. Mammographic breast density and breast cancer: evidence of a shared genetic basis. Cancer Res. 2012 Mar 15; 72(6):1478-84. PMID: 22266113; PMCID: PMC3378688.
    104. Greenwood CM, Paterson AD, Linton L, Andrulis IL, Apicella C, Dimitromanolakis A, Kriukov V, Martin LJ, Salleh A, Samiltchuk E, Parekh RV, Southey MC, John EM, Hopper JL, Boyd NF, Rommens JM. A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Res. 2011; 13(6):R132. PMID: 22188651; PMCID: PMC3326574.
    105. Ghosh S, Bickeböller H, Bailey J, Bailey-Wilson JE, Cantor R, Culverhouse R, Daw W, Destefano AL, Engelman CD, Hinrichs A, Houwing-Duistermaat J, König IR, Kent J, Laird N, Pankratz N, Paterson A, Pugh E, Suarez B, Sun Y, Thomas A, Tintle N, Zhu X, Ziegler A, Maccluer JW, Almasy L. Identifying rare variants from exome scans: the GAW17 experience. BMC Proc. 2011 Nov 29; 5 Suppl 9:S1. PMID: 22373325.
      View in: PubMed
    106. Hu P, Xu W, Cheng L, Xing X, Paterson AD. Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data. BMC Proc. 2011 Nov 29; 5 Suppl 9:S45. PMID: 22373371.
      View in: PubMed
    107. Szatmari P, Liu XQ, Goldberg J, Zwaigenbaum L, Paterson AD, Woodbury-Smith M, Georgiades S, Duku E, Thompson A. Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan; 159B(1):5-12. PMID: 22095612.
      View in: PubMed
    108. Melka MG, Bernard M, Mahboubi A, Abrahamowicz M, Paterson AD, Syme C, Lourdusamy A, Schumann G, Leonard GT, Perron M, Richer L, Veillette S, Gaudet D, Paus T, Pausova Z. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. J Clin Endocrinol Metab. 2012 Jan; 97(1):E145-50. PMID: 22013104.
      View in: PubMed
    109. Muise AM, Xu W, Guo CH, Walters TD, Wolters VM, Fattouh R, Lam GY, Hu P, Murchie R, Sherlock M, Gana JC, Russell RK, Glogauer M, Duerr RH, Cho JH, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Silverberg MS, Brumell JH. NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant in NCF2 that results in reduced binding to RAC2. Gut. 2012 Jul; 61(7):1028-35. PMID: 21900546; PMCID: PMC3806486.
    110. Liu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari P. Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. 2011 Jul; 50(7):687-696.e13. PMID: 21703496.
      View in: PubMed
    111. Muise AM, Walters T, Xu W, Shen-Tu G, Guo CH, Fattouh R, Lam GY, Wolters VM, Bennitz J, van Limbergen J, Renbaum P, Kasirer Y, Ngan BY, Turner D, Denson LA, Sherman PM, Duerr RH, Cho J, Lees CW, Satsangi J, Wilson DC, Paterson AD, Griffiths AM, Glogauer M, Silverberg MS, Brumell JH. Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis. Gastroenterology. 2011 Aug; 141(2):633-41. PMID: 21684284.
      View in: PubMed
    112. Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Silva Idos S, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet. 2011 Mar; 43(3):185-7. PMID: 21278746; PMCID: PMC3076615.
    113. 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.
      View in: PubMed
    114. Sun L, Dimitromanolakis A, Faye LL, Paterson AD, Waggott D, Bull SB. BR-squared: a practical solution to the winner's curse in genome-wide scans. Hum Genet. 2011 May; 129(5):545-52. PMID: 21246217; PMCID: PMC3074069.
    115. Rahman P, Roslin NM, Pellett FJ, Lemire M, Greenwood CM, Beyene J, Pope A, Peddle L, Paterson AD, Uddin M, Gladman DD. High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis. Ann Rheum Dis. 2011 Apr; 70(4):690-4. PMID: 21242233.
      View in: PubMed
    116. Thomas A, Abel HJ, Di Y, Faye LL, Jin J, Liu J, Wu Z, Paterson AD. Effect of linkage disequilibrium on the identification of functional variants. Genet Epidemiol. 2011; 35 Suppl 1:S115-9. PMID: 22128051; PMCID: PMC3248791.
    117. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet. 2011 Jan; 48(1):48-54. PMID: 20972252; PMCID: PMC3003876.
    118. Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B. Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. PLoS One. 2010 Oct 13; 5(10):e13314. PMID: 20967208; PMCID: PMC2954166.
    119. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet. 2010 Oct 15; 19(20):4072-82. PMID: 20663923.
      View in: PubMed
    120. Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Torres VE, Harris PC, Paterson AD, Pei Y. Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol. 2010 Sep; 21(9):1510-20. PMID: 20616171; PMCID: PMC3013521.
    121. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul 15; 466(7304):368-72. PMID: 20531469.
      View in: PubMed
    122. Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet. 2010 Jul; 47(7):453-63. PMID: 20472660.
      View in: PubMed
    123. Fehringer G, Ozcelik H, Knight JA, Paterson AD, Dite GS, Giles GG, Southey MC, Andrulis IL, Hopper JL, Boyd NF. Family-based association study of IGF1 microsatellites and height, weight, and body mass index. J Hum Genet. 2010 Apr; 55(4):255-8. PMID: 20300125.
      View in: PubMed
    124. Yoo YJ, Bull SB, Paterson AD, Waggott D, Sun L. Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies. Genet Epidemiol. 2010 Feb; 34(2):107-18. PMID: 19626703; PMCID: PMC2811772.
    125. Jacobson AM, Paterson AD, Ryan CM, Cleary PA, Waberski BH, Weinger K, Musen G, Dahms W, Bayless M, Silvers N, Harth J, Boright AP. The associations of apolipoprotein E and angiotensin-converting enzyme polymorphisms and cognitive function in Type 1 diabetes based on an 18-year follow-up of the DCCT cohort. Diabet Med. 2010 Jan; 27(1):15-22. PMID: 20121884.
      View in: PubMed
    126. Roslin NM, Hamid JS, Paterson AD, Beyene J. Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study. BMC Proc. 2009 Dec 15; 3 Suppl 7:S117. PMID: 20017982; PMCID: PMC2795889.
    127. Beyene J, Hu P, Hamid JS, Parkhomenko E, Paterson AD, Tritchler D. Pathway-based analysis of a genome-wide case-control association study of rheumatoid arthritis. BMC Proc. 2009 Dec 15; 3 Suppl 7:S128. PMID: 20017994; PMCID: PMC2795901.
    128. Hamid JS, Roslin NM, Paterson AD, Beyene J. Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes. BMC Proc. 2009 Dec 15; 3 Suppl 7:S44. PMID: 20018036; PMCID: PMC2795943.
    129. Paterson AD, Waggott D, Schillert A, Infante-Rivard C, Bull SB, Yoo YJ, Pinnaduwage D. Transmission-ratio distortion in the Framingham Heart Study. BMC Proc. 2009 Dec 15; 3 Suppl 7:S51. PMID: 20018044; PMCID: PMC2795951.
    130. Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CP. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood. 2010 Feb 11; 115(6):1264-6. PMID: 20007542.
      View in: PubMed
    131. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association Studies (STREGA)--an extension of the STROBE statement. Genet Epidemiol. 2009 Nov; 33(7):581-98. PMID: 19278015.
      View in: PubMed
    132. Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM, Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes. 2010 Feb; 59(2):539-49. PMID: 19875614; PMCID: PMC2809960.
    133. Paterson AD, Lopes-Virella MF, Waggott D, Boright AP, Hosseini SM, Carter RE, Shen E, Mirea L, Bharaj B, Sun L, Bull SB. Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. Arterioscler Thromb Vasc Biol. 2009 Nov; 29(11):1958-67. PMID: 19729612; PMCID: PMC3147250.
    134. Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J, Soranzo N, Gwilliam R, Deloukas P, Savelieva I, Zheng D, Dalageorgou C, Farrall M, Samani NJ, Connell J, Brown M, Dominiczak A, Lathrop M, Zeggini E, Wain LV, Newton-Cheh C, Eijgelsheim M, Rice K, de Bakker PI, Pfeufer A, Sanna S, Arking DE, Asselbergs FW, Spector TD, Carter ND, Jeffery S, Tobin M, Caulfield M, Snieder H, Paterson AD, Munroe PB, Jamshidi Y. Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS One. 2009 Jul 09; 4(7):e6138. PMID: 19587794.
      View in: PubMed
    135. Barua M, Cil O, Paterson AD, Wang K, He N, Dicks E, Parfrey P, Pei Y. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol. 2009 Aug; 20(8):1833-8. PMID: 19443633; PMCID: PMC2723982.
    136. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement. Eur J Clin Invest. 2009 Apr; 39(4):247-66. PMID: 19297801; PMCID: PMC2730482.
    137. Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, Barati MT, Klein JB, Ng DP, Placha G, Canani LH, Bochenski J, Waggott D, Merchant ML, Krolewski B, Mirea L, Wanic K, Katavetin P, Kure M, Wolkow P, Dunn JS, Smiles A, Walker WH, Boright AP, Bull SB, Doria A, Rogus JJ, Rich SS, Warram JH, Krolewski AS. Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes. 2009 Jun; 58(6):1403-10. PMID: 19252134; PMCID: PMC2682673.
    138. Fehringer G, Boyd NF, Knight JA, Paterson AD, Dite GS, Giles GG, Southey MC, Andrulis IL, Hopper JL, Ozcelik H. Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk. Breast Cancer Res Treat. 2009 Nov; 118(2):415-24. PMID: 19229608.
      View in: PubMed
    139. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart AF, Birkett N. Strengthening the reporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement. J Clin Epidemiol. 2009 Jun; 62(6):597-608.e4. PMID: 19217256.
      View in: PubMed
    140. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement. Eur J Epidemiol. 2009; 24(1):37-55. PMID: 19189221; PMCID: PMC2764094.
    141. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association studies (STREGA): an extension of the STROBE Statement. Ann Intern Med. 2009 Feb 03; 150(3):206-15. PMID: 19189911.
      View in: PubMed
    142. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med. 2009 Feb 03; 6(2):e22. PMID: 19192942; PMCID: PMC2634792.
    143. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement. Hum Genet. 2009 Mar; 125(2):131-51. PMID: 19184668.
      View in: PubMed
    144. Wallis RH, Wang K, Marandi L, Hsieh E, Ning T, Chao GY, Sarmiento J, Paterson AD, Poussier P. Type 1 diabetes in the BB rat: a polygenic disease. Diabetes. 2009 Apr; 58(4):1007-17. PMID: 19168599; PMCID: PMC2661594.
    145. Wang K, Zhao X, Chan S, Cil O, He N, Song X, Paterson AD, Pei Y. Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2009 Feb; 4(2):442-9. PMID: 19158373; PMCID: PMC2637591.
    146. Boyd NF, Martin LJ, Rommens JM, Paterson AD, Minkin S, Yaffe MJ, Stone J, Hopper JL. Mammographic density: a heritable risk factor for breast cancer. Methods Mol Biol. 2009; 472:343-60. PMID: 19107441.
      View in: PubMed
    147. Wilcox MA, Paterson AD. Phenotype definition and development--contributions from Group 7. Genet Epidemiol. 2009; 33 Suppl 1:S40-4. PMID: 19924715; PMCID: PMC3033653.
    148. Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP. Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood. 2009 Feb 12; 113(7):1543-6. PMID: 18988861; PMCID: PMC2644082.
    149. Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M. Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008 Nov; 83(5):656. PMID: 19068953; PMCID: PMC2674770.
    150. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan; 20(1):205-12. PMID: 18945943; PMCID: PMC2615723.
    151. Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS, Polychronakos C, Hakonarson H. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes. 2009 Jan; 58(1):290-5. PMID: 18840781; PMCID: PMC2606889.
    152. Fehringer G, Ozcelik H, Knight JA, Paterson AD, Boyd NF. Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women. Breast Cancer Res Treat. 2009 Jul; 116(2):413-23. PMID: 18785005.
      View in: PubMed
    153. Wither J, Cai YC, Lim S, McKenzie T, Roslin N, Claudio JO, Cooper GS, Hudson TJ, Paterson AD, Greenwood CM, Gladman D, Pope J, Pineau CA, Smith CD, Hanly JG, Peschken C, Boire G, Fortin PR. Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity. Arthritis Res Ther. 2008; 10(5):R108. PMID: 18783591; PMCID: PMC2592790.
    154. Cheung CL, Sham PC, Chan V, Paterson AD, Luk KD, Kung AW. Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association. J Clin Endocrinol Metab. 2008 Nov; 93(11):4448-55. PMID: 18697872.
      View in: PubMed
    155. Liu XQ, Paterson AD, Szatmari P. Genome-wide linkage analyses of quantitative and categorical autism subphenotypes. Biol Psychiatry. 2008 Oct 01; 64(7):561-70. PMID: 18632090; PMCID: PMC2670970.
    156. Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008 Apr; 82(4):1011-8. PMID: 18387594; PMCID: PMC2427291.
    157. Liu XQ, Paterson AD, He N, St George-Hyslop P, Rauta V, Gronhagen-Riska C, Laakso M, Thibaudin L, Berthoux F, Cattran D, Pei Y. IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. J Am Soc Nephrol. 2008 May; 19(5):1025-33. PMID: 18256354.
      View in: PubMed
    158. Huang B, Rangrej J, Paterson AD, Sun L. The multiplicity problem in linkage analysis of gene expression data - the power of differentiating cis- and trans-acting regulators. BMC Proc. 2007; 1 Suppl 1:S142. PMID: 18466486; PMCID: PMC2367579.
    159. Rangrej J, Beyene J, Hu P, Paterson AD. Sex, age and generation effects on genome-wide linkage analysis of gene expression in transformed lymphoblasts. BMC Proc. 2007; 1 Suppl 1:S92. PMID: 18466596; PMCID: PMC2367486.
    160. Zhao X, Paterson AD, Zahirieh A, He N, Wang K, Pei Y. Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations. Clin J Am Soc Nephrol. 2008 Jan; 3(1):146-52. PMID: 18077784; PMCID: PMC2390981.
    161. Al-Kateb H, Boright AP, Mirea L, Xie X, Sutradhar R, Mowjoodi A, Bharaj B, Liu M, Bucksa JM, Arends VL, Steffes MW, Cleary PA, Sun W, Lachin JM, Thorner PS, Ho M, McKnight AJ, Maxwell AP, Savage DA, Kidd KK, Kidd JR, Speed WC, Orchard TJ, Miller RG, Sun L, Bull SB, Paterson AD. Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics study. Diabetes. 2008 Jan; 57(1):218-28. PMID: 17914031.
      View in: PubMed
    162. Paterson AD, Liu XQ, Wang K, Magistroni R, Song X, Kappel J, Klassen J, Cattran D, St George-Hyslop P, Pei Y. Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. J Am Soc Nephrol. 2007 Aug; 18(8):2408-15. PMID: 17634434.
      View in: PubMed
    163. Al-Kateb H, Mirea L, Xie X, Sun L, Liu M, Chen H, Bull SB, Boright AP, Paterson AD. Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study. Diabetes. 2007 Aug; 56(8):2161-8. PMID: 17513698.
      View in: PubMed
    164. Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul; 81(1):136-46. PMID: 17564970; PMCID: PMC1950917.
    165. Paterson AD, Rutledge BN, Cleary PA, Lachin JM, Crow RS. The effect of intensive diabetes treatment on resting heart rate in type 1 diabetes: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications study. Diabetes Care. 2007 Aug; 30(8):2107-12. PMID: 17468351.
      View in: PubMed
    166. Wallis RH, Wang K, Dabrowski D, Marandi L, Ning T, Hsieh E, Paterson AD, Mordes JP, Blankenhorn EP, Poussier P. A novel susceptibility locus on rat chromosome 8 affects spontaneous but not experimentally induced type 1 diabetes. Diabetes. 2007 Jun; 56(6):1731-6. PMID: 17389329; PMCID: PMC3987115.
    167. 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.
      View in: PubMed
    168. Wijsman EM, Sung YJ, Buil A, Atkinson E, Bastone L, Christensen GB, Diao G, Feng T, Franceschini N, Huang S, Kan D, Kerner B, Lantieri F, Lee E, Papachristou C, Paterson A, Rangrej J, Wang S, Xing C, Zhu X. Summary of Genetic Analysis Workshop 15: Group 9 linkage analysis of the CEPH expression data. Genet Epidemiol. 2007; 31 Suppl 1:S75-85. PMID: 18046772.
      View in: PubMed
    169. Sun L, Craiu RV, Paterson AD, Bull SB. Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies. Genet Epidemiol. 2006 Sep; 30(6):519-30. PMID: 16800000.
      View in: PubMed
    170. Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Héon E. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. Am J Hum Genet. 2006 Oct; 79(4):702-9. PMID: 16960806; PMCID: PMC1592554.
    171. Ng MY, Sham PC, Paterson AD, Chan V, Kung AW. Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann Hum Genet. 2006 Jul; 70(Pt 4):428-38. PMID: 16759177.
      View in: PubMed
    172. Liu XQ, Paterson AD, John EM, Knight JA. The role of self-defined race/ethnicity in population structure control. Ann Hum Genet. 2006 Jul; 70(Pt 4):496-505. PMID: 16759181.
      View in: PubMed
    173. Murdoch SJ, Boright AP, Paterson AD, Zinman B, Steffes M, Cleary P, Edwards K, Marcovina SS, Purnell JQ, Brunzell JD. LDL composition in E2/2 subjects and LDL distribution by Apo E genotype in type 1 diabetes. Atherosclerosis. 2007 May; 192(1):138-47. PMID: 16740268.
      View in: PubMed
    174. Stehbens SJ, Paterson AD, Crampton MS, Shewan AM, Ferguson C, Akhmanova A, Parton RG, Yap AS. Dynamic microtubules regulate the local concentration of E-cadherin at cell-cell contacts. J Cell Sci. 2006 May 01; 119(Pt 9):1801-11. PMID: 16608875.
      View in: PubMed
    175. Paterson AD. Genetic epidemiology of type 1 diabetes. Curr Diab Rep. 2006 Apr; 6(2):139-46. PMID: 16542625.
      View in: PubMed
    176. James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O'Brien L, Leggo J, Lillicrap D. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost. 2006 Apr; 4(4):783-92. PMID: 16634747.
      View in: PubMed
    177. 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; PMCID: PMC2649013.
    178. Lau HH, Ng MY, Cheung WM, Paterson AD, Sham PC, Luk KD, Chan V, Kung AW. Assessment of linkage and association of 13 genetic loci with bone mineral density. J Bone Miner Metab. 2006; 24(3):226-34. PMID: 16622736.
      View in: PubMed
    179. Bailey-Wilson JE, Almasy L, de Andrade M, Bailey J, Bickeböller H, Cordell HJ, Daw EW, Goldin L, Goode EL, Gray-McGuire C, Hening W, Jarvik G, Maher BS, Mendell N, Paterson AD, Rice J, Satten G, Suarez B, Vieland V, Wilcox M, Zhang H, Ziegler A, MacCluer JW. Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans. BMC Genet. 2005 Dec 30; 6 Suppl 1:S1. PMID: 16451554; PMCID: PMC1866841.
    180. Suarez BK, Taylor C, Bertelsen S, Bierut LJ, Dunn G, Jin CH, Kauwe JS, Paterson AD, Hinrichs AL. An analysis of identical single-nucleotide polymorphisms genotyped by two different platforms. BMC Genet. 2005 Dec 30; 6 Suppl 1:S152. PMID: 16451613; PMCID: PMC1866782.
    181. Wang KS, Liu M, Paterson AD. Evaluating outlier loci and their effect on the identification of pedigree errors. BMC Genet. 2005 Dec 30; 6 Suppl 1:S155. PMID: 16451616; PMCID: PMC1866779.
    182. Liu XQ, Greenwood CM, Wang KS, Paterson AD. A genome scan for parent-of-origin linkage effects in alcoholism. BMC Genet. 2005 Dec 30; 6 Suppl 1:S160. PMID: 16451622; PMCID: PMC1866773.
    183. Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ, Paterson AD. Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol. 2005 Oct; 6(10):798-808. PMID: 16198986.
      View in: PubMed
    184. Paterson AD. To: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900-905. Diabetologia. 2005 Oct; 48(10):2179. PMID: 16132962.
      View in: PubMed
    185. Ivakine EA, Fox CJ, Paterson AD, Mortin-Toth SM, Canty A, Walton DS, Aleksa K, Ito S, Danska JS. Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse. J Immunol. 2005 Jun 01; 174(11):7129-40. PMID: 15905556.
      View in: PubMed
    186. Loo JC, Paterson AD, Hao A, Shennan M, Peretz H, Sidi Y, Hogg D, Yakobson E. Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population. J Med Genet. 2005 May; 42(5):e30. PMID: 15863662; PMCID: PMC1736056.
    187. 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.
      View in: PubMed
    188. Tsui HW, Inman RD, Paterson AD, Reveille JD, Tsui FW. ANKH variants associated with ankylosing spondylitis: gender differences. Arthritis Res Ther. 2005; 7(3):R513-25. PMID: 15899038; PMCID: PMC1174945.
    189. Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, Hudson TJ, Polychronakos C. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet. 2005 Feb; 37(2):111-2; author reply 112-3. PMID: 15678135.
      View in: PubMed
    190. Zaidi SH, Peltekova V, Meyer S, Lindinger A, Paterson AD, Tsui LC, Faiyaz-Ul-Haque M, Teebi AS. A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet. 2005 Feb; 67(2):183-8. PMID: 15679832.
      View in: PubMed
    191. Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. J Invest Dermatol. 2005 Feb; 124(2):338-42. PMID: 15675952.
      View in: PubMed
    192. Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St George-Hyslop P, Pei Y. Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2005 Mar; 16(3):755-62. PMID: 15677307.
      View in: PubMed
    193. 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.
      View in: PubMed
    194. Venken T, Claes S, Sluijs S, Paterson AD, van Duijn C, Adolfsson R, Del-Favero J, Van Broeckhoven C. Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population. Am J Hum Genet. 2005 Feb; 76(2):237-48. PMID: 15614721; PMCID: PMC1196369.
    195. Cortes LM, Baltazar LM, Lopez-Cardona MG, Olivares N, Ramos C, Salazar M, Sandoval L, Lorenz MG, Chakraborty R, Paterson AD, Rivas F. HLA class II haplotypes in Mexican systemic lupus erythematosus patients. Hum Immunol. 2004 Dec; 65(12):1469-76. PMID: 15603875.
      View in: PubMed
    196. Orlacchio A, Kawarai T, Polidoro M, Paterson AD, Rogaeva E, Orlacchio A, St George-Hyslop PH, Bernardi G. Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene. Neurosci Lett. 2004 Jun 03; 363(1):49-53. PMID: 15157994.
      View in: PubMed
    197. Newhook LA, Curtis J, Hagerty D, Grant M, Paterson AD, Crummel C, Bridger T, Parfrey P. High incidence of childhood type 1 diabetes in the Avalon Peninsula, Newfoundland, Canada. Diabetes Care. 2004 Apr; 27(4):885-8. PMID: 15047643.
      View in: PubMed
    198. 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.
      View in: PubMed
    199. Chan NL, Bourdeau A, Vera S, Abdalla S, Gross M, Wong J, Cymerman U, Paterson AD, Mullen B, Letarte M. Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. Placenta. 2004 Feb-Mar; 25(2-3):208-17. PMID: 14972453.
      View in: PubMed
    200. Lo B, Faiyaz-Ul-Haque M, Banwell B, Blaser S, Paterson AD, Tsui LC, Teebi AS. The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23. Clin Genet. 2004 Feb; 65(2):137-42. PMID: 14984473.
      View in: PubMed
    201. Paterson AD, Sun L, Liu XQ. Transmission ratio distortion in families from the Framingham Heart Study. BMC Genet. 2003 Dec 31; 4 Suppl 1:S48. PMID: 14975116; PMCID: PMC1866484.
    202. Liu XQ, Hanley AJ, Paterson AD. Genetic analysis of common factors underlying cardiovascular disease-related traits. BMC Genet. 2003 Dec 31; 4 Suppl 1:S56. PMID: 14975124; PMCID: PMC1866493.
    203. Ma HM, Schulze S, Lee S, Yang M, Mirkov E, Irvine J, Moore P, Paterson A. An EST survey of the sugarcane transcriptome. Theor Appl Genet. 2004 Mar; 108(5):851-63. PMID: 14647901.
      View in: PubMed
    204. 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; PMCID: PMC1735578.
    205. Tsui FW, Tsui HW, Cheng EY, Stone M, Payne U, Reveille JD, Shulman MJ, Paterson AD, Inman RD. Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis. Arthritis Rheum. 2003 Mar; 48(3):791-7. PMID: 12632434.
      View in: PubMed
    206. Satomi J, Mount RJ, Toporsian M, Paterson AD, Wallace MC, Harrison RV, Letarte M. Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke. 2003 Mar; 34(3):783-9. PMID: 12624308.
      View in: PubMed
    207. Petronis A, Gottesman II, Kan P, Kennedy JL, Basile VS, Paterson AD, Popendikyte V. Monozygotic twins exhibit numerous epigenetic differences: clues to twin discordance? Schizophr Bull. 2003; 29(1):169-78. PMID: 12908672.
      View in: PubMed
    208. Hauser ER, Hsu FC, Daley D, Olson JM, Rampersaud E, Lin JP, Paterson AD, Poisson LM, Chase GA, Dahmen G, Ziegler A. Effects of covariates: a summary of Group 5 contributions. Genet Epidemiol. 2003; 25 Suppl 1:S43-9. PMID: 14635168.
      View in: PubMed
    209. Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology. 2002 Nov 12; 59(9):1395-401. PMID: 12427890.
      View in: PubMed
    210. Ramanathan S, Bihoreau MT, Paterson AD, Marandi L, Gauguier D, Poussier P. Thymectomy and radiation-induced type 1 diabetes in nonlymphopenic BB rats. Diabetes. 2002 Oct; 51(10):2975-81. PMID: 12351436.
      View in: PubMed
    211. Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y. Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2002 Jul; 40(1):16-20. PMID: 12087556.
      View in: PubMed
    212. Cantor JM, Blanchard R, Paterson AD, Bogaert AF. How many gay men owe their sexual orientation to fraternal birth order? Arch Sex Behav. 2002 Feb; 31(1):63-71. PMID: 11910793.
      View in: PubMed
    213. Dar P, Javed AA, Ben-Yishay M, Ferreira JC, Paterson AD, Gross SJ, Chitayat D, Morrow BE, Nitowsky HM. Potential mapping of corneal dermoids to Xq24-qter. J Med Genet. 2001 Oct; 38(10):719-23. PMID: 11594343; PMCID: PMC1734739.
    214. Bourdeau A, Faughnan ME, McDonald ML, Paterson AD, Wanless IR, Letarte M. Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia. Am J Pathol. 2001 Jun; 158(6):2011-20. PMID: 11395379; PMCID: PMC1891990.
    215. Héon E, Paterson AD, Fraser M, Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL. A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22. Am J Hum Genet. 2001 Mar; 68(3):772-7. PMID: 11179024; PMCID: PMC1274489.
    216. Paterson A, Frush DP, Donnelly LF. Helical CT of the body: are settings adjusted for pediatric patients? AJR Am J Roentgenol. 2001 Feb; 176(2):297-301. PMID: 11159060.
      View in: PubMed
    217. Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet. 2001 Feb; 68(2):355-63. PMID: 11156533; PMCID: PMC1235269.
    218. Srivastava A, Cotton C, Paterson AD. Sex- and age-of-onset-based locus heterogeneity in asthma. Genet Epidemiol. 2001; 21 Suppl 1:S154-9. PMID: 11793659.
      View in: PubMed
    219. Grigull J, Alexandrova R, Paterson AD. Clustering of pedigrees using marker allele frequencies: impact on linkage analysis. Genet Epidemiol. 2001; 21 Suppl 1:S61-6. PMID: 11793748.
      View in: PubMed
    220. Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O'Donovan MC, Paterson AD, Petronis A, Kennedy JL. Long repeat tracts at SCA8 in major psychosis. Am J Med Genet. 2000 Dec 04; 96(6):873-6. PMID: 11121201.
      View in: PubMed
    221. Ozdemir V, Kalow W, Tang BK, Paterson AD, Walker SE, Endrenyi L, Kashuba AD. Evaluation of the genetic component of variability in CYP3A4 activity: a repeated drug administration method. Pharmacogenetics. 2000 Jul; 10(5):373-88. PMID: 10898107.
      View in: PubMed
    222. DeLisi LE, Craddock NJ, Detera-Wadleigh S, Foroud T, Gejman P, Kennedy JL, Lendon C, Macciardi F, McKeon P, Mynett-Johnson L, Nurnberger JI, Paterson A, Schwab S, Van Broeckhoven C, Wildenauer D, Crow TJ. Update on chromosomal locations for psychiatric disorders: report of the interim meeting of chromosome workshop chairpersons from the VIIth World Congress of Psychiatric Genetics, Monterey, California, October 14-18, 1999. Am J Med Genet. 2000 Jun 12; 96(3):434-49. PMID: 10898931.
      View in: PubMed
    223. Fox CJ, Paterson AD, Mortin-Toth SM, Danska JS. Two genetic loci regulate T cell-dependent islet inflammation and drive autoimmune diabetes pathogenesis. Am J Hum Genet. 2000 Jul; 67(1):67-81. PMID: 10848492; PMCID: PMC1287103.
    224. Paterson AD. Analysis of parental-origin effects in linkage data. Mol Psychiatry. 2000 Mar; 5(2):125-7. PMID: 10822335.
      View in: PubMed
    225. Paterson AD, Petronis A. Age and sex based genetic locus heterogeneity in type 1 diabetes. J Med Genet. 2000 Mar; 37(3):186-91. PMID: 10699054; PMCID: PMC1734543.
    226. Vincent JB, Neves-Pereira ML, Paterson AD, Yamamoto E, Parikh SV, Macciardi F, Gurling HM, Potkin SG, Pato CN, Macedo A, Kovacs M, Davies M, Lieberman JA, Meltzer HY, Petronis A, Kennedy JL. An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. Am J Hum Genet. 2000 Mar; 66(3):819-29. PMID: 10712198; PMCID: PMC1288165.
    227. Paterson AD, Petronis A. Age of diagnosis-based linkage analysis in type 1 diabetes. Eur J Hum Genet. 2000 Feb; 8(2):145-8. PMID: 10757648.
      View in: PubMed
    228. Wither JE, Paterson AD, Vukusic B. Genetic dissection of B cell traits in New Zealand black mice. The expanded population of B cells expressing up-regulated costimulatory molecules shows linkage to Nba2. Eur J Immunol. 2000 Feb; 30(2):356-65. PMID: 10671190.
      View in: PubMed
    229. Vincent JB, Paterson AD, Strong E, Petronis A, Kennedy JL. The unstable trinucleotide repeat story of major psychosis. Am J Med Genet. 2000; 97(1):77-97. PMID: 10813808.
      View in: PubMed
    230. Paterson AD, Petronis A. Transmission ratio distortion in females on chromosome 10p11-p15. Am J Med Genet. 1999 Dec 15; 88(6):657-61. PMID: 10581486.
      View in: PubMed
    231. Paterson AD, Pei Y. PKD3-to be or not to be? Nephrol Dial Transplant. 1999 Dec; 14(12):2965-6. PMID: 10570111.
      View in: PubMed
    232. Paterson AD, Rahman P, Petronis A. IDDM9 and a locus for rheumatoid arthritis on chromosome 3q appear to be distinct. Hum Immunol. 1999 Sep; 60(9):883-5. PMID: 10527397.
      View in: PubMed
    233. Paterson AD, Sunohara GA, Kennedy JL. Dopamine D4 receptor gene: novelty or nonsense? Neuropsychopharmacology. 1999 Jul; 21(1):3-16. PMID: 10379515.
      View in: PubMed
    234. Basile VS, Masellis M, Badri F, Paterson AD, Meltzer HY, Lieberman JA, Potkin SG, Macciardi F, Kennedy JL. Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia. Neuropsychopharmacology. 1999 Jul; 21(1):17-27. PMID: 10379516.
      View in: PubMed
    235. Paterson AD, Naimark DM, Petronis A. The analysis of parental origin of alleles may detect susceptibility loci for complex disorders. Hum Hered. 1999 Jul; 49(4):197-204. PMID: 10436381.
      View in: PubMed
    236. Paterson AD. Sixth World Congress of Psychiatric Genetics X Chromosome Workshop. Am J Med Genet. 1999 Jun 18; 88(3):279-86. PMID: 10374746.
      View in: PubMed
    237. Paterson AD, Petronis A. Sex of affected sibpairs and genetic linkage to type 1 diabetes. Am J Med Genet. 1999 May 07; 84(1):15-9. PMID: 10213040.
      View in: PubMed
    238. Paterson AD, Naimark DM, Huang J, Vachon C, Petronis A, King RA, Anderson VE, Sellers TA. Genetic anticipation and breast cancer: a prospective follow-up study. Breast Cancer Res Treat. 1999 May; 55(1):21-8. PMID: 10472776.
      View in: PubMed
    239. Popendikyte V, Laurinavicius A, Paterson AD, Macciardi F, Kennedy JL, Petronis A. DNA methylation at the putative promoter region of the human dopamine D2 receptor gene. Neuroreport. 1999 Apr 26; 10(6):1249-55. PMID: 10363934.
      View in: PubMed
    240. Paterson AD, Petronis A. Sex-based linkage analysis of alcoholism. Genet Epidemiol. 1999; 17 Suppl 1:S289-94. PMID: 10597451.
      View in: PubMed
    241. Petronis A, Kennedy JL, Paterson AD. Haplotype analysis in the Collaborative Study on the Genetics of Alcoholism data: double recombinants. Genet Epidemiol. 1999; 17 Suppl 1:S301-6. PMID: 10597453.
      View in: PubMed
    242. Darlington GA, Shin J, Paterson AD, Liu Y, Fallah S, Toma C. Evaluation of the contribution of environmental factors. Genet Epidemiol. 1999; 17 Suppl 1:S533-8. PMID: 10597488.
      View in: PubMed
    243. Naimark DM, Paterson AD. Application of probabilistic neural network analysis to a disease with complex inheritance: the GAW11 simulated data. Genet Epidemiol. 1999; 17 Suppl 1:S667-71. PMID: 10597511.
      View in: PubMed
    244. Petronis A, Paterson AD, Kennedy JL. Schizophrenia: an epigenetic puzzle? Schizophr Bull. 1999; 25(4):639-55. PMID: 10667737.
      View in: PubMed
    245. Paterson AD, Pei Y. Is there a third gene for autosomal dominant polycystic kidney disease? Kidney Int. 1998 Nov; 54(5):1759-61. PMID: 9844156.
      View in: PubMed
    246. Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St George-Hyslop P. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. J Am Soc Nephrol. 1998 Oct; 9(10):1853-60. PMID: 9773786.
      View in: PubMed
    247. Rogaeva E, Premkumar S, Song Y, Sorbi S, Brindle N, Paterson A, Duara R, Levesque G, Yu G, Nishimura M, Ikeda M, O'Toole C, Kawarai T, Jorge R, Vilarino D, Bruni AC, Farrer LA, St George-Hyslop PH. Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. JAMA. 1998 Aug 19; 280(7):614-8. PMID: 9718052.
      View in: PubMed
    248. Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P. Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. Hum Mol Genet. 1998 May; 7(5):933-5. PMID: 9536099.
      View in: PubMed
    249. Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney Int. 1998 May; 53(5):1127-32. PMID: 9573526.
      View in: PubMed
    250. Paterson AD. X-chromosome workshop. Psychiatr Genet. 1998; 8(2):121-6. PMID: 9686435.
      View in: PubMed
    251. Paterson AD, Kennedy JL, Petronis A. Evidence for genetic anticipation in non-Mendelian diseases. Am J Hum Genet. 1996 Jul; 59(1):264-8. PMID: 8659536; PMCID: PMC1915124.
    252. Paterson AD, Ying DJ, Petronis A, Schoots O, Lieberman JA, Van Tol HH, Kennedy JL. A PstI restriction fragment length polymorphism in the 5' untranslated region of DRD4 is not associated with schizophrenia. Psychiatr Genet. 1996; 6(4):191-3. PMID: 9149324.
      View in: PubMed
    253. Petronis A, Sherrington RP, Paterson AD, Kennedy JL. Genetic anticipation in schizophrenia: pro and con. Clin Neurosci. 1995; 3(2):76-80. PMID: 7583622.
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    Paterson's networks
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