| Synaptic, transcriptional and chromatin genes disrupted in autism S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ... Nature 515 (7526), 209-215, 2014 | 2927 | 2014 |
| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2377 | 2010 |
| Structural variation of chromosomes in autism spectrum disorder CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ... The American Journal of Human Genetics 82 (2), 477-488, 2008 | 2211 | 2008 |
| Reduction in neural-tube defects after folic acid fortification in Canada P De Wals, F Tairou, MI Van Allen, SH Uh, RB Lowry, B Sibbald, JA Evans, ... New England Journal of Medicine 357 (2), 135-142, 2007 | 1164 | 2007 |
| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1135 | 2014 |
| Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ... Nature neuroscience 20 (4), 602-611, 2017 | 832 | 2017 |
| Contribution of SHANK3 mutations to autism spectrum disorder R Moessner, CR Marshall, JS Sutcliffe, J Skaug, D Pinto, J Vincent, ... The American Journal of Human Genetics 81 (6), 1289-1297, 2007 | 810 | 2007 |
| Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond S Hansford, P Kaurah, H Li-Chang, M Woo, J Senz, H Pinheiro, ... JAMA oncology 1 (1), 23-32, 2015 | 773 | 2015 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 740 | 2010 |
| Whole-genome sequencing of quartet families with autism spectrum disorder RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ... Nature medicine 21 (2), 185-191, 2015 | 617 | 2015 |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 552 | 2011 |
| Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ... Jama 297 (21), 2360-2372, 2007 | 545 | 2007 |
| Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978-985, 2017 | 500 | 2017 |
| Individual common variants exert weak effects on the risk for autism spectrum disorders R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ... Human molecular genetics 21 (21), 4781-4792, 2012 | 459 | 2012 |
| Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ... Jama 314 (9), 895-903, 2015 | 455 | 2015 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 453 | 2016 |
| Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD AC Lionel, J Crosbie, N Barbosa, T Goodale, B Thiruvahindrapuram, ... Science translational medicine 3 (95), 95ra75-95ra75, 2011 | 421 | 2011 |
| SHANK1 deletions in males with autism spectrum disorder D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ... The American Journal of Human Genetics 90 (5), 879-887, 2012 | 402 | 2012 |
| Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study SJ Moore, JS Green, Y Fan, AK Bhogal, E Dicks, BA Fernandez, ... American journal of medical genetics Part A 132 (4), 352-360, 2005 | 380 | 2005 |
| Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia Molecular autism 8, 1-17, 2017 | 360 | 2017 |
