Global variation in copy number in the human genome R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry, TD Andrews, H Fiegler, ... nature 444 (7118), 444-454, 2006 | 5484 | 2006 |
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 | 2844 | 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 | 2347 | 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 | 2182 | 2008 |
Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1665 | 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 | 1101 | 2014 |
Subgroup-specific structural variation across 1,000 medulloblastoma genomes PA Northcott, DJH Shih, J Peacock, L Garzia, A Sorana Morrissy, ... Nature 488 (7409), 49-56, 2012 | 984 | 2012 |
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ... Nature genetics 49 (1), 27-35, 2017 | 968 | 2017 |
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa HJ Watson, Z Yilmaz, LM Thornton, C Hübel, JRI Coleman, HA Gaspar, ... Nature genetics 51 (8), 1207-1214, 2019 | 880 | 2019 |
A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802-808, 2009 | 806 | 2009 |
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 | 804 | 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 | 799 | 2007 |
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 | 737 | 2010 |
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation S Berkel, CR Marshall, B Weiss, J Howe, R Roeth, U Moog, V Endris, ... Nature genetics 42 (6), 489-491, 2010 | 660 | 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 | 597 | 2015 |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 554 | 2018 |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ... The American Journal of Human Genetics 93 (2), 249-263, 2013 | 548 | 2013 |
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 | 541 | 2011 |
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 | 439 | 2015 |
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 | 412 | 2011 |