| Clinical whole-exome sequencing for the diagnosis of mendelian disorders Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ... New England Journal of Medicine 369 (16), 1502-1511, 2013 | 2285 | 2013 |
| Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 HT Orr, M Chung, S Banfi, TJ Kwiatkowski Jr, A Servadio, AL Beaudet, ... Nature genetics 4 (3), 221-226, 1993 | 2033 | 1993 |
| The NIH roadmap epigenomics mapping consortium BE Bernstein, JA Stamatoyannopoulos, JF Costello, B Ren, ... Nature biotechnology 28 (10), 1045-1048, 2010 | 1931 | 2010 |
| Chromosomal microarray versus karyotyping for prenatal diagnosis RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ... New England Journal of Medicine 367 (23), 2175-2184, 2012 | 1583 | 2012 |
| Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015 | 1534 | 2015 |
| Molecular findings among patients referred for clinical whole-exome sequencing Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ... Jama 312 (18), 1870-1879, 2014 | 1514 | 2014 |
| Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863-885, 2011 | 1508 | 2011 |
| High-throughput discovery of novel developmental phenotypes ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ... Nature 537 (7621), 508-514, 2016 | 1129 | 2016 |
| Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report T Buie, DB Campbell, GJ Fuchs III, GT Furuta, J Levy, J VandeWater, ... Pediatrics 125 (Supplement_1), S1-S18, 2010 | 1098 | 2010 |
| De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome T Matsuura, JS Sutcliffe, P Fang, RJ Galjaard, Y Jiang, CS Benton, ... Nature genetics 15 (1), 74-77, 1997 | 1032 | 1997 |
| Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation Y Jiang, D Armstrong, U Albrecht, CM Atkins, JL Noebels, G Eichele, ... Neuron 21 (4), 799-811, 1998 | 939 | 1998 |
| Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity G Schiedner, N Morral, RJ Parks, Y Wu, SC Koopmans, C Langston, ... Nature genetics 18 (2), 180-183, 1998 | 905 | 1998 |
| Sequential contribution of L-and P-selectin to leukocyte rolling in vivo. K Ley, DC Bullard, ML Arbonés, R Bosse, D Vestweber, TF Tedder, ... The Journal of experimental medicine 181 (2), 669-675, 1995 | 781 | 1995 |
| P-Selectin or Intercellular Adhesion Molecule (Icam)-1 Deficiency Substantially Protects against Atherosclerosis in Apolipoprotein E–Deficient Mice RG Collins, R Velji, NV Guevara, MJ Hicks, L Chan, AL Beaudet The Journal of experimental medicine 191 (1), 189-194, 2000 | 723 | 2000 |
| Angelman syndrome 2005: updated consensus for diagnostic criteria CA Williams, AL Beaudet, J Clayton‐Smith, JH Knoll, M Kyllerman, ... American journal of medical genetics Part A 140 (5), 413-418, 2006 | 708 | 2006 |
| Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1. JE Sligh Jr, CM Ballantyne, SS Rich, HK Hawkins, CW Smith, A Bradley, ... Proceedings of the National Academy of Sciences 90 (18), 8529-8533, 1993 | 702 | 1993 |
| Resolution of disease phenotypes resulting from multilocus genomic variation JE Posey, T Harel, P Liu, JA Rosenfeld, RA James, ZH Coban Akdemir, ... New England Journal of Medicine 376 (1), 21-31, 2017 | 687 | 2017 |
| Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster T Sahoo, D Del Gaudio, JR German, M Shinawi, SU Peters, RE Person, ... Nature genetics 40 (6), 719-721, 2008 | 683 | 2008 |
| Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3 X Wang, PA McCoy, RM Rodriguiz, Y Pan, HS Je, AC Roberts, CJ Kim, ... Human molecular genetics 20 (15), 3093-3108, 2011 | 629 | 2011 |
| Recurrent reciprocal 16p11. 2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size M Shinawi, P Liu, SHL Kang, J Shen, JW Belmont, DA Scott, FJ Probst, ... Journal of medical genetics 47 (5), 332-341, 2010 | 605 | 2010 |
