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About Sickkids
About SickKids

Andrew Paterson, MD

Research Institute
Senior Scientist
Genetics & Genome Biology

University of Toronto
Dalla Lana School of Public Health

Phone: 416-813-6994
Email: andrew.paterson@utoronto.ca

Brief Biography

I received a medical degree from the University of Glasgow in 1995 and from 1996-2000 I was a post-doctoral fellow at the University of Toronto. From 2000-2001 I was a Research Associate at The Centre  for Applied Genomics at Sickkids. In 2001, I become a Scientist in Genetics and Genome Biology and in 2008 I was promoted to Senior Scientist.

Research Interests

My interests focus on human genetics. Specifically, we work on the identification of genetic risk factors for complications of type 1 diabetes - specifically eye and renal disease. We have been using clinical data and genetic material from individuals who participated in the Diabetes Control and Complications Trial, a very important clinical trial in type 1 diabetes to identify genetic variations that are associated with the risk of eye and kidney disease. In addition, we are using data from the same individuals to identify genetic factors that are associated with the major risk factors for these diseases, including blood glucose level and blood pressure.

Our future plans are to continue the understanding of the genetic basis of both the risk factors for diabetes complications as well as the complications themselves, with the goal of understanding the mechanisms involved. Identification of novel mechanisms could result in improved screening, as well as new treatments.

We also work on a number of other, mostly common diseases.

Research Activities

Type 1 diabetes (previously called insulin-dependent diabetes) is a common complex disease defined by absence of insulin secretion from B-cells in the pancreas. Persons with type 1 diabetes require life-long insulin to survive. Living with mildly elevated blood glucose for decades results in complications which include damage to the eyes, blood vessels and kidneys. The onset of type 1 diabetes occurs commonly in childhood or early adulthood and the lifetime risk in Caucasians is approximately 1:300. The pathogenesis of type 1 diabetes is thought to be predominantly autoimmune in nature.

Genetic factors are important in the etiology of type 1 diabetes, as shown by twin, family and molecular studies. Identical co-twins of persons with type 1 diabetes have a 70 per cent chance of being affected by 35 years of age. Fraternal (i.e. non-identical) twins of persons with type 1 diabetes have a 13 per cent risk to develop type 1 diabetes, similar to the risk to siblings. Family studies show that type 1 diabetes clusters in families. Molecular genetic studies have shown linkage and association of variations in specific genes with type 1 diabetes: class II HLA loci on the short arm of chromosome 6, and a complex repetitive polymorphism near the insulin gene on the short arm of chromosome 11. However, variation in these two genes accounts for only a half of the genetic effects - it is thought there are over 20 additional genes in which variation alters a person's susceptibility to type 1 diabetes. We are using a number of strategies to attempt to identify these additional susceptibility loci.

Future Research Interests

Future projects include genetic studies of type 1 diabetes using families from the Canadian province of Newfoundland. Also we will be performing genetic studies of type 1 diabetes and specific diabetic complications, specifically retinopathy, nephropathy and cardiovascular disease, using families that participated in the Diabetes Control and Complications Trial (DCCT, now called the Epidemiology of Diabetes Interventions and Complications, EDIC).

External Funding

  • Canadian Institutes of Health Research
  • National Institutes of Health
  • Genome Canada
  • Ontario Research Fund
  • Juvenile Diabetes Research Foundation


Canada Research Chair in Genetics of Complex Diseases (2002 - 2012)


Gallaugher M, Canty AJ, Paterson AD (in press) Factors associated with heterogeneity in microarray gene expression in peripheral blood mononuclear cells from large pedigrees. BMC Proceedings.(SRA)

Liu X-Q, Fazio J, Hu PZ, Paterson AD (in press) Identity-by-descent mapping of diastolic blood pressure in unrelated Mexican Americans. BMC Proceedings (SRA)

Eny KM, Orchard TJ, Miller RG, Maynard J, Grant DM, Costacou T, Cleary PA, Braffett BH, DCCT/EDIC Research Group, Paterson AD (in press) Caffeine consumption contributes to skin intrinsic fluorescence in type 1 diabetes. Diabetes Technology and Therapeutics (SRA)

Klein R, Myers CE, Lee KE, Paterson AD, Cruickshanks KJ, Tsai MY, Gangnon RE, Klein BEK (in press) Serum oxidized low-density lipoprotein and the incidence of proliferative diabetic retinopathy and clinically significant macular edema from fundus photographs. JAMA Ophthalmology.

Kevans D, Turpin W, Madsen K, Meddings J, Shestopaloff K, Xu W, Moreno-Hagelsieb G, Griffiths A, Silverberg MS, Paterson A, Croitoru K, GEM Project (2015) Determinants of intestinal permeability in healthy first-degree relatives of individuals with Crohn's disease. Inflammatory Bowel Diseases 21(4):879-87.

Janice Sarmiento, Robert H. Wallis, Terri Ning, Leili Marandi, Gary Chao, André Veillette, Åke Lernmark, Andrew D. Paterson, Philippe Poussier (2015) A functional polymorphism of Pptn22 is associated with type 1 diabetes in the biobreeding rat. Journal of Immunology 194(2):615-629

Marc Woodbury-Smith, Andrew D. Paterson, Bhooma Thiruvahindrapduram, Anath C. Lionel, Christian R. Marshall, Daniele Merico, Bridget Fernandez, Eric Duku, James S. Sutcliffe, Irene O’Conner, Christina Chrysler, Ann Thompson, Barbara Kellam, Kristiina Tammimies, Suzi Walker, Ryan Yuen, Mohammed Uddin, Jennifer Howe, Morgan Parlier, Kathy Whitten, Peter Szatmari, Veronica Vieland,, Joe Piven, Stephen W. Scherer (2015) Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. Human Genetics 134:191-201.

Hosseini SM, Boright AP, Sun L, Canty AJ, Bull SB, Klein BE, Klein R, the DCCT/EDIC Research Group, Paterson AD (2015) The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy. Human Genetics 134:247-57.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Durr A, Brice A, Levy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Scherer SW, Rouleau G, Megarbane A, Isaya G, Delaguem V, Yoon G (2015) PMPCA mutations causes abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 138(Pt 6):1505-17

Xu L, Paterson AD, Turpin W, Xu W (2015) Assessment and selection of competing models for zero-inflated microbiome data. Plos One 10(7):e0129606

Soave D, Corvol H, Panjwani N, Gong, J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L (2015) A joint location-scale test improves power to detect associated SNPs, gene sets and pathways. American Journal of Human Genetics 97: 124-138

Gagliano SA, Paterson AD, Weale ME, Knight J (2015) Assessing models for genetic prediction of complex traits: a comparison of visualization and quantitative methods. BMC Genomics 16(1):405.

Nalpathamkalam T, Derkach A, Paterson AD, Merico D (2014) Genetic analysis workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation and gene annotation. BMC Proceedings. 8(Suppl 1):S11.

Derkach A, Lawless JF, Merico D, Paterson AD, Sun L (2014) Evaluation of gene-based association tests for analyzing rare variants using genetic analysis workshop 18 data. BMC Proceedings. 8(Suppl 1):S9.

Hu P, Paterson AD (2014) Dynamic pathway analysis of genes associated with blood pressure using whole genome sequence data. BMC Proceedings. 8(Suppl 1):S106.

Xu L, Craiu RV, Derkach A, Paterson AD, Sun L (2014) Using a bayesian latent variable approach to detect pleiotropy in the genetic analysis workshop 18 data. BMC Proceedings. 8(Suppl 1):S77.

Anath C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Abdul Noor, Cassandra K. Runke, Vamsee K. Pillalamarri, Melissa T. Carter, Matthew J. Gazzellone, Daniele Merico, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone W. Laulund, Giovanna Pellecchia, Sylvia Lamoreaux, Charu Deshpande, Jill Clayton-Smith, Ann White, Dr. Susan Leather, John Trounce, H. Melanie Bedford, Peggy S. Eis, Ryan K.C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva M. Tomiak, Bridget A. Fernandez, Noam Soreni, Paul D. Arnold, Russell J. Schachar, Wendy Roberts, Andrew D. Paterson, Joyce So, Peter Szatmari, Christina Chrysler, Brian R. Lowry, Lonnie Zwaigenbaum, Divya Mandyam, John Wei, Jeff MacDonald, Jennifer L. Howe, Thomas Nalpathamkalam, Zhuozhi Wang, Daniel Tolson, David S. Cobb, Timothy M. Wilks, Mark J. Sorensen, Patricia I. Bader, Yu An, Bai-lin Wu, Sebastiano Antonino Musumeci, Corrado Romano, Diana Postorivo, Anna M. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli,Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch-Andersen, Marsha Speevak, Marco Fichera,Caroline Mackie Ogilvie, Yiping Shen, Jennelle C. Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer (2014) Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Human Molecular Genetics 23:2752-68.

Miao F, Chen Z, Genuth S, Paterson AD, Zhang L, Wu X , Li SM, Cleary P, Riggs AD, Harlan DM, Lorenzi G, Kolterman O, Sun W, Lachin JM, Natarajan R and the DCCT/EDIC Research Group (2014) Evaluating the role of epigenetic histone modifications in the metabolic memory of type 1 diabetes. Diabetes 63:1748-62 (CA) DSM, AD, DP
(featured in commentary: Pirola L (2014) The DCCT/EDIC Study: Epigenetic Clues After Three Decades. Diabetes 2014;63:1460–1462)

Niina Sandholm, Carol Forsblom, Ville-Petteri Mäkinen, Amy Jayne McKnight, Anne-May Österholm, Bing He, Valma Harjutsalo, Raija Lithovius, Daniel Gordin, Maija Parkkonen, Markku Saraheimo, Lena M Thorn, Nina Tolonen, Johan Wadén, Jaakko Tuomilehto, Maria Lajer, Emma Ahlqvist, Anna Möllsten, M. Loredana Marcovecchio, Jason Cooper, David Dunger, Andrew D Paterson, Gianpaolo Zerbini, Leif Groop, The SUMMIT Consortium, Lise Tarnow, Alexander P Maxwell, Karl Tryggvason, Per-Henrik Groop on behalf of the FinnDiane Study (2014) Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes. Diabetologia 57:1143-53

Gary Chao, Robert H. Wallis, Leili Marandi, Terri Ning, Janice Sarmiento, Andrew D. Paterson, Philippe Poussier (2014) Iddm30 controls pancreatic expression of Ccl11 (Eotaxin) and the Th1/Th2 balance within the insulitic lesions. Journal of Immunology 192:3645-53

Paterson AD (2014) Drinking from the holy grail of human genetics: analysis of whole-genome sequencing from the genetic analysis workshop 18. Genetic Epidemiology 38:S1–S4.

Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhouzhi Wang, Jacob AS Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T.Pagnamenta, Barbara Oliveira, Christian R. Marshall, Tiago Magalhaes, Jennifer K. Lowe, Jennifer L. Howe, Anthony J. Griswold, John Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha V. De Jonge, Michael Cuccaro, Emily L. Crawford, Catarina T. Correia, Judith Conroy, Ines C. Conceição, Andreas G. Chiocchetti, Jillian Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Herman van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Le Couteur, Alexander Kolevzon, Patricia Jiménez González, Suma Jacob, Richard Holt, Stephen Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget Fernandez, Frederico Duque, Richard Delorme, Geraldine Dawson, Pauline Chaste, Cátia Café, Sean Brennan, Thomas Bourgeron, Patrick F. Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony J. Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret Pericak-Vance, Andrew D. Paterson, Jeremy R. Parr, Guiomar Oliveira, John I. Nurnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hakon Hakonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur, Stephen W. Scherer (2014) Convergence of genes and Cellular Pathways dysregulated in Autism Spectrum Disorders. Am J Hum Genet, 94:677-94.

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 AT, 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; CARe Consortium; COGENT Consortium, 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; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, 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; HRGEN Consortium, 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, Greco M FD, 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, Arnlöv 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. (2014) Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics.  46(8):826-36.

Eny KM, Lutgers HL, Maynard J, Klein BEK, 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, LifeLines Cohort Study Group, DCCT/EDIC Research Group, Wolffenbuttel BHR, Paterson AD (2014) GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence. Diabetologia 57:1623-34.

Sarmiento J, Wallis RH, Ning T, Marandi L, Chao GY, Paterson AD, Poussier P (2014) Genetic dissection of Iddm26 in the spontaneously diabetic BBDP rat. Genes and Immunity. 15(6):378-91.

Nieminen TT, Marie-Françoise O’Donohue, Yunpeng Wu, Hannes Lohi, Stephen W. Scherer, Andrew D. Paterson, Pekka Ellonen, Wael M. Abdel-Rahman, Satu Valo, Jukka-Pekka Mecklin, Heikki J. Järvinen, Pierre-Emmanuel Gleizes, Päivi Peltomäki (2014) Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology 147: 595-598.e5

Claire L. Simpson, Robert Wojciechowski, Konrad Oexle, Federico Murgia, Laura Portas, Xiaohui Li, Virginie J.M. Verhoeven, Veronique Vitart, Maria Schache, S. Mohsen Hosseini, Pirro G. Hysi, Leslie J. Raffel, Mary Frances Cotch, Emily Chew, Barbara E. K. Klein, Ronald Klein, Tien Yin Wong, Cornelia M. van Duijn, Paul Mitchell, Seang Mei Saw, Maurizio Fossarello, Jie Jin Wang, DCCT/EDIC Research Group, Ozren Polašek, Harry Campbell, Igor Rudan, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Fernando Rivadeneira, Najaf Amin, Lennart C. Karssen, Johannes R. Vingerling, Angela Döring, Thomas Bettecken, Goran Bencic, Christian Gieger, H.-Erich Wichmann, James F. Wilson, Cristina Venturini, Brian Fleck, Phillippa M. Cumberland, Jugnoo S. Rahi, Chris J. Hammond, Caroline Hayward, Alan F. Wright, Andrew D. Paterson, Paul Nigel Baird, Caroline C.W. Klaver, Jerome I. Rotter, Mario Pirastu, Thomas Meitinger, Joan E. Bailey-Wilson, Dwight D. Stambolian (2014) Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. Plos One Sep 18;9(9):e107110

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 for the Markers of Density (MODE) consortium (2014) Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nature Communications Oct 24;5:5303.

Ajoy Vincent, Nicole Forster, Jason T Maynes, Tara A Paton, Gail Billingsley, Nicole M Roslin, Arfan Ali, Joanne Sutherland, Tom Wright, Carol A. Westall, Andrew D. Paterson, Christian Marshall, FORGE Canada consortium, Elise Heon (2014) OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. Journal of Medical Genetics 51:797-805

Alison Merikangas, Ricardo Segurado, Eleisa Heron, Richard Anney, Andrew D. Paterson, Edwin Cook, Dalila Pinto, Steven Scherer, Peter Szatmari, Michael Gill, Aiden Corvin, Louise Gallagher (2014) The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Molecular Psychiatry. Nov 25.

Qing Li, Robert Wojciechowski, Claire Simpson, Pirro G. Hysi, Virginie J.M. Verhoeven, René Höhn, Veronique Vitart, Fan Qiao, Ching-Yu Cheng, Alex W. Hewitt, Konrad Oexle, Kari-Matti Mäkelä, Stuart MacGregor, Mario Pirastu , Beaté St Pourcain, George McMahon, John P. Kemp, Kate Northstone, Nicholas G. Martin, Paul G. Sanfilippo, Yi Lu, Ya Xing Wang, Caroline Hayward, Ozren  Polašek, Harry Campbell, Goran Bencic, Alan F. Wright, Juho Wedenoja, Tanja Zeller, Alireza Mirshahi, Christian Müller, Karl Lackner, Shea Ping Yip, Maurice K. H. Yap, Janina S. Ried, Federico Murgia, Jim F. Wilson, Brian Fleck, Seyhan Yazar, Johannes R. Vingerling, Albert Hofman, André Uitterlinden, Fernando Rivadeneira, Najaf Amin, Lennart Karssen, Oostra Ben A, Mohammad Kamran Ikram, Zhou Xin, Yik Ying Teo, E. Shyong Tai, Eranga Vithana, Veluchamy Barathi, Yingfeng Zheng, Rosalynn Grace Siantar, Kumari Neelam, Youchan Shin, Janice Lam, Ekaterina Yonova-Doing, Cristina Venturini, S. Mohsen Hosseini, Hoi-Suen Wong, Terho Lehtimäki, Mika Kähönen, Olli Raitakari, Nicholas J. Timpson, David M. Evans, Chiea Chuen Khor, Aung Tin, The CREAM Consortium, Paul Mitchell, Barbara Klein, Cornelia M. van Duijn, Thomas Meitinger, Jost B. Jonas, Paul Baird, David A. Mackey, Tien Yin Wong, Saw Seang Mei, Olavi Pärssinen, Dwight Stambolian, Christopher J. Hammond, Caroline C.W. Klaver, Cathy Williams, Andrew D. Paterson, Joan E. Bailey-Wilson, Jeremy A. Guggenheim (2014) Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. Human Genetics

Lizhen Xu, Radu V. Craiu, Lei Sun, Andrew D. Paterson (2014) Parameter expanded algorithms for bayesian latent variable modeling of genetic pleiotropy data. Journal of Computational and Graphical Statistics

Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, FORGE Canada Consortium, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F (2013)  Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2. Am J Hum Genet 92:252-8

Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beate St. Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, the CREAM Consortium, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, the DCCT/EDIC Research Group, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, Wellcome Trust Case Control Consortium 2, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo Jr, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar, the Fuchs’ Genetics Multi-Center Study Group, Theo G.M.F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polasek, Zoran Vatavuk, James F. Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, Andre´ G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A.B. Bergen, Yik-Ying Teo, Jugnoo S. Rahi, Veronique Vitart, Cathy Williams, Paul N. Baird, Tien-Yin Wong, Konrad Oexle, Norbert Pfeiffer, David A. Mackey, Terri L. Young, Cornelia M. van Duijn, Seang-Mei Saw, Joan E. Bailey Wilson, Dwight Stambolian, Caroline C. Klaver, Christopher J. Hammond (2013) Genome-wide meta-analyses of multi-ancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics 45:314-8

Crosbie J, Arnold P, Paterson A, Swanson J, Dupuis A, Li X, Shan J, Goodale T, Tam C, Strug LJ, Schachar RJ (2013) Response Inhibition and ADHD Traits: Correlates and Heritability in a Community Sample. J Abnorm Child Psychol 41:497-507.
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 (2013) An enzyme linked immunosorbent assay (ELISA) for the eetermination of the human haptoglobin phenotype. Clinical Chemistry 51:1615-22.

Dwight Stambolian, Robert Wojciechowski, Konrad Oexle, Mario Pirastu, Xiaohui Li, Leslie J. Raffel, Mary Frances Cotch, Emily Chew, Barbara E. K. Klein, Ronald Klein, Tien Y. Wong, Claire L. Simpson, Caroline CW Klaver, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Paul N Baird, Veronique Vitart, Andrew D. Paterson, Paul Mitchell, Seang Mei Saw, Maurizio Fossarello, Krista Kazmierkiewicz, Federico Murgia, Laura Portas, Maria Schache, Andrea J Richardson, Jing Xie, Jie Jin Wang, Elena Rochtchina, DCCT/EDIC Research Group, Ananth C Viswanathan, Caroline Hayward, Alan Wright, Ozren Polašek, Harry Campbell, Igor Rudan, Ben A. Oostra, Andre G. Uitterlinden, Albert Hofman, Fernando Rivadeneira, Najaf Amin, Lennart C. Karssen, Johannes Vingerling, S. Mohsen Hosseini, Angela Döring, Thomas Bettecken, Zoran Vatavuk, Christian Gieger, H.-Erich Wichmann, James F Wilson, Brian Fleck, Paul J. Foster, Fotis Topouzis, Peter McGuffin, Xueling Sim, Michael Inouye, Elizabeth G Holliday, John Attia, Rodney J Scott, Jerome I. Rotter, Thomas Meitinger, Joan E. Bailey-Wilson (2013) 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. Human Molecular Genetics 22:2754-64.

Rydz N, Swystun L, Notley C, Paterson AD, Riches J, Boonyarat B, Montgomery RR, James PD, Lillicrap D (2013) The C-type lectin receptor CLEC4M binds, internalizes and clears von Willebrand factor and contributes to variation in plasma von Willebrand factor levels. Blood 121:5228-37.

Eric Duku, Peter Szatmari, Tracy Vaillancourt, Stelios Georgiades, Ann Thompson, Xiao-Qing Liu, Andrew D. Paterson, Terry Bennett (2013) Measurement equivalence of the autism symptom phenotype in children and youth. Journal of Child Psychology and Psychiatry

Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF (2013) Mammographic density and breast cancer: a comparison of related and unrelated controls in the breast cancer family registry. Breast Cancer Research 15:R43

Ching-Yu Cheng, Maria Schache, M Kamran Ikram, Terri L Young, Jeremy A Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J M Verhoeven, Veluchamy A Barathi, Jiemin Liao, Pirro G Hysi, Joan E Bailey-Wilson,  Beate St Pourcain, John P Kemp, George McMahon, Nicholas J Timpson, David M Evans, Nicholas G Martin, Aniket Misra, Ya Xing Wang, Jie Jin Wang, Elena Rochtchina, Ozren Polasek, Alan F Wright, Najaf Amin, Elisabeth M van Leeuwen, James F Wilson, Craig E Pennell, Cornelia M van Duijn, Paulus T V M de Jong, Johannes R Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Consortium for Refractive Error and Myopia (CREAM), Kathryn P Burdon, Jamie E Craig, Sudha K Iyengar, Robert P Igo, Jonathan H Lass Jr, The Fuchs’ Genetics Multi-Center Study Group, Emily Chew, Toomas Haller, Andres Metspalu, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Juho Wedenoja, Claire L. Simpson, Robert Wojciechowski, René Höhn, Alireza Mirshahi, Tanja Zeller, Norbert Pfeiffer, Karl J Lackner, Wellcome Trust Case Control Consortium 2 (WTCCC2), Thomas Bettecken, Thomas Meitinger, Konrad Oexle, Mario Pirastu, Laura Portas, Abhishek Nag, Katie M Williams, Ekaterina Yonova-Doing, Barbara E. Klein, S Mohsen Hosseini, Andrew D Paterson, the DCCT/EDIC Research Group, Kari-Matti Makela, Terho Lehtimaki, Mika Kahonen, Olli Raitakari, Nagahisa Yoshimura, Fumihiko Matsuda, Li Jia Chen, Chi Pui Pang, Shea Ping Yip, Maurice K H Yap, Akira Meguro, Nobuhisa Mizuki, Hidetoshi Inoko, Paul J Foster, Jing Hua Zhao, Eranga Vithana, E-Shyong Tai, Qiao Fan, Tin Aung, Harry Campbell, Brian Fleck, Igor Rudan, Liang Xu, Albert Hofman, Andre´ G Uitterlinden, Goran Bencic, Chiea-Chuen Khor, Hannah Forward, Olavi Pärssinen, Paul Mitchell, Fernando Rivadeneira, Alex W Hewitt, Cathy Williams, Ben A Oostra, Yik-Ying Teo, Christopher J Hammond,  Dwight Stambolian, David Mackey, Caroline C. W. Klaver, Tien Y. Wong, Seang-Mei Saw, Paul N. Baird (2013) Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet 93, 264-277.

Orchard T,Sun W, Cleary P, Genuth S; Lachin J, McGee P, Paterson A, Raskin P, Anbinder Y, Levy A (2013) Haptoglobin genotype and the rate of renal function decline in the diabetes control and complications trial/epidemiology of diabetes interventions and complications study. Diabetes 62:3218-23.

Cross-Disorder Group of the Psychiatric Genomics Consortium, 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, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Devlin B, Kelsoe JR, Sklar P, Daly MJ, O'Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR. (2013) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 45:984-94.

Mirea L, Yanga J, Paterson AD, Shah V, Bassil KL, Lee SK, Shah  PS and the Canadian Neonatal Network (2013) Relationship of mode of conception and sex concordance with mortality/morbidity in preterm twins. Twin Research and Human Genetics 16:985-93.

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X. Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Avila-Casado, Andrew D. Paterson, Patrick Nitschke, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, , Edgar A. Otto,  Moumita Barua, M. Hashim Al-Hamed, Jameela A. Kari, Detlef Bockenhauer, Robert Kleta, Sherif El Desoky, Duygu O. Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, Martin Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt  (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. JCI. 123:5179-89. Nov 25. pii: 69000.

Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Jillian Casey, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Maretha de Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Eric Fombonne, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Andrew Green, Jonathan Green, Stephen J. Guter, Elizabeth A. Heron, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Suma Jacob, Graham P Kenny, Cecilia Kim, Alexander Kolevzon, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb, Miriam Law‐Smith, Marion Leboyer, Ann Le Couteur, Bennett L. Leventhal, Xiao‐Qing Liu, Frances Lombard, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Tiago R. Magalhaes, Carine Mantoulan, Christopher J. McDougle, Nadine M. Melhem, Alison Merikangas, Nancy J. Minshew, Ghazala K. Mirza, Jeff Munson, Carolyn Noakes, Katerina Papanikolaou, Alistair T. Pagnamenta, Barbara Parrini, Tara Paton, Andrew Pickles, David J Posey, Fritz Poustka, Jiannis Ragoussis, Regina Regan, Katy Renshaw, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L. Rutter, Sabine Schlitt, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Nuala Sykes, Raffaella Tancredi, Ann P. Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, JAS Vorstman, Simon Wallace, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Danielle Zurawiecki, Lonnie Zwaigenbaum, Anthony J. Bailey, Agatino Battaglia, Rita M. Cantor, Hilary Coon, Michael L. Cuccaro, Geraldine Dawson, Sean Ennis, Christine M. Freitag, Daniel H. Geschwind, Jonathan L. Haines, Sabine M. Klauck, William M. McMahon, Elena Maestrini, Judith Miller, Anthony P. Monaco, Stanley F. Nelson, John I. Nurnberger Jr., Guiomar Oliveira, Jeremy R. Parr, Margaret A. Pericak‐Vance, Joseph Piven, Gerard D. Schellenberg, Stephen W. Scherer, Astrid M. Vicente, Thomas H. Wassink, Ellen M. Wijsman, Catalina Betancur, Joseph D. Buxbaum, Edwin H. Cook, Louise Gallagher, Michael Gill, Joachim Hallmayer, Andrew D. Paterson, James S. Sutcliffe, Peter Szatmari, Veronica J. Vieland, Hakon Hakonarson, Bernie Devlin (2012) Individual common variants exert weak effects on risk for autism spectrum disorders. Human Molecular Genetics 21:4781-92.

Niina Sandholm, Rany M Salem, Amy Jayne McKnight, Eoin P Brennan, Tamara Isakova, Carol Forsblom, Gareth J McKay, Winfred W Williams, Denise M Sadlier, Ville-Petteri Mäkinen, Elizabeth J Swan, Cameron Palmer, Andrew P Boright, Claes Ladenvall, Samy Hadjadj, Harshal A Deshmukh, Benjamin J Keller, Aila Ahola, Emma Fagerholm, Daniel Gordin, Valma Harjutsalo, Bing He, Outi Heikkilä, Kustaa Hietala, Janne Kytö, Päivi Lahermo, Markku Lehto, Anne-May Österholm, Maija Parkkonen, Janne Pitkäniemi, Milla Rosengård-Bärlund, Markku  Saraheimo, Cinzia Sarti, Jenny Söderlund, Aino Soro-Paavonen, Anna Syreeni, Lena M Thorn, Heikki Tikkanen, Nina Tolonen, Karl Tryggvason, Jaakko Tuomilehto, Johan Wadén, Geoffrey V Gill, Sarah Prior, Candace Guiducci, Daniel B Mirel, Andrew Taylor, Mohsen Hosseini, DCCT/EDIC Research Group, Hans-Henrik Parving, Peter Rossing, Lise Tarnow, Emma Ahlqvist, François Alhenc-Gelas, Pierre Lefebvre, Vincent Rigalleau, Roussel Ronan, David-Alexandre Tregouet, Anna Maestroni, Silvia Maestroni, Henrik Falhammar, Tianwei Gu, Anna Möllsten, Dan Cimponeriu, Ioana Mihai, Maria Mota, Eugen Mota, Cristian Serafinceanu, Monica Stavarachi, Robert L Hanson, Robert G Nelson, Matthias Kretzler, Helen M Colhoun, Nicolae Mircea Panduru, Harvest F Gu, Kerstin Brismar, Gianpaolo Zerbini, Michel Marre, Leif Groop, Maria Lajer, Shelley B Bull, Daryl Waggott, Andrew D Paterson, David A Savage, Stephen Bain, Finian Martin, Joel N Hirschhorn, Catherine Godson, Jose C Florez, Per-Henrik Groop and Alexander P Maxwell (2012) New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genetics 8(9) e1002921.

Hotaling JM, Waggott DR, Goldberg J, Jarvik G, Paterson AD, Cleary PA, Lachin J, Sarma A, Wessells H; DCCT/EDIC Research Group (2012) Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes Using the DCCT/EDIC Study Cohort. Journal of Urology. 2012 Jun 13.

Paterson AD, Bull SB (in press) Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that independently? Journal of Cardiovascular Translational Research. 5(4):388-98.

Kristen N. Stevens, Sara Lindstrom, Christopher G. Scott, Deborah Thompson, Thomas A. Sellers, Xianshu Wang, Alice Wang, Elizabeth Atkinson, David N. Rider, Jeanette E. Eckel-Passow, Jajini S. Varghese, Tina Audley, Judith Brown, Jean Leyland, Robert N. Luben, Ruth M.L. Warren, Ruth J.F. Loos, Nicholas J. Wareham, Jingmei Li, Per Hall, Jianjun Liu, Louise Eriksson, Kamila Czene, Janet E. Olson, V. Shane Pankratz, Zachary Fredericksen, Robert B. Diasio, Adam M. Lee, John A. Heit, Mariza deAndrade, Ellen L. Goode, Robert A. Vierkant, Julie M. Cunningham, Sebastian M. Armasu, Richard Weinshilboum, Brooke L. Fridley, Anthony Batzler, James N. Ingle, Norman F. Boyd, Andrew D. Paterson, Johanna Rommens, Lisa J. Martin, John L. Hopper, Melissa C. Southey, Jennifer Stone, Carmel Apicella, Peter Kraft, Susan E. Hankinson, Aditi Hazra, David J. Hunter, Douglas F. Easton, Fergus J. Couch, Rulla M. Tamimi, Celine M. Vachon (2012) Identification of a novel locus for percent mammogr  aphic density at 12q24. Human Molecular Genetics. 21(14):3299-305.

 van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, Hysi PG, Macgregor S, Janssen SF, Hewitt AW, WTCCC2-first,  ten Brink J, Hosseini SM, Amin N, Dominiek D.G., Despriet, J.J.M. Willemse-Assink, R.Kramer, Fernando Rivadeneira Ramirez, Struchalin M, Aulchenko YS, N. Weisschuh, Mardin CY, Gramer E, Welge-Lüssen U, Montgomery GW, Carbonaro F, Young, TL , the DCCT/EDIC research group, M.A. Czudowska, Hofman A, Uitterlinden AG, Wolfs RCW, Paulus T.V.M. de Jong, Oostra BA, Paterson AD, Mackey DA, Bergen AAB, Reis A, Hammond CJ, Vingerling JR, Lemij HG, Klaver CCW, van Duijn CM (2012) Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLos Genetics. 8(5):e1002611.

Greenwood CMT, 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 (2011) A genome-wide linkage study of mammographic density, a risk factor for breast cancer. Breast Cancer Research 13(6):R132.

Liu XQ, Georgiades S, Duku E, Thompson A, Devlin B, Cook EH, Wijsman EM, Paterson AD, Szatmari P, The Autism Genome Project (2011) Identification of genetic loci underlying the phenotypic constructs of autism spectrum disorders. Journal of the American Academy of Child and Adolescent Psychiatry 50: 687-696.

Lindström S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham N, Loos RJF, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, dos Santos Silva I, Liu J, Eriksson L, Couch FJ, Stone J, Apicella L, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM (2011) Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nature Genetics 43 185-7.

Böger CA, Chen MH, Tin A, Olden M, Köttgen A, Deboer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia S  L, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; the CKDGen Consortium, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson AD on behalf of DCCT/EDIC, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH. (2011) CUBN is a gene locus for albuminuria. Journal of the American Society of Nephrology 22: 555-570

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 (2010) Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. Plos One 5:e13314.

Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CPM (2010) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood, 115: 1264-6.

Paterson AD, Waggott D, Boright AP, Hosseini SM, Shen E, Sylvestre MP, Wong I, Bharaj B, Cleary PA, Lachin JM, MAGIC, Below JE, Nicolae D, Cox NJ, Canty AJ, Sun L, Bull SB, and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Research Group (2010) 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, 59: 539-549.