| Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders A Hamosh, AF Scott, JS Amberger, CA Bocchini, VA McKusick Nucleic acids research 33 (suppl_1), D514-D517, 2005 | 3400 | 2005 |
| OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders JS Amberger, CA Bocchini, F Schiettecatte, AF Scott, A Hamosh Nucleic acids research 43 (D1), D789-D798, 2015 | 2400 | 2015 |
| Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man HH Kazazian Jr, C Wong, H Youssoufian, AF Scott, DG Phillips, ... Nature 332 (6160), 164-166, 1988 | 1117 | 1988 |
| Multiple-laboratory comparison of microarray platforms RA Irizarry, D Warren, F Spencer, IF Kim, S Biswal, BC Frank, ... Nature methods 2 (5), 345-350, 2005 | 1077 | 2005 |
| Reverse transcriptase encoded by a human transposable element SL Mathias, AF Scott, HH Kazazian Jr, JD Boeke, A Gabriel Science 254 (5039), 1808-1810, 1991 | 909 | 1991 |
| McKusick's online Mendelian inheritance in man (OMIM®) J Amberger, CA Bocchini, AF Scott, A Hamosh Nucleic acids research 37 (suppl_1), D793-D796, 2009 | 841 | 2009 |
| OMIM. org: leveraging knowledge across phenotype–gene relationships JS Amberger, CA Bocchini, AF Scott, A Hamosh Nucleic acids research 47 (D1), D1038-D1043, 2019 | 829 | 2019 |
| Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders A Hamosh, AF Scott, J Amberger, C Bocchini, D Valle, VA McKusick Nucleic acids research 30 (1), 52-55, 2002 | 786 | 2002 |
| The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ... The American Journal of Human Genetics 97 (2), 199-215, 2015 | 782 | 2015 |
| A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 TH Beaty, JC Murray, ML Marazita, RG Munger, I Ruczinski, JB Hetmanski, ... Nature genetics 42 (6), 525-529, 2010 | 691 | 2010 |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer CC Laurie, CA Laurie, K Rice, KF Doheny, LR Zelnick, CP McHugh, ... Nature genetics 44 (6), 642-650, 2012 | 664 | 2012 |
| Online Mendelian inheritance in man (OMIM) A Hamosh, AF Scott, J Amberger, D Valle, VA McKusick Human mutation 15 (1), 57-61, 2000 | 604 | 2000 |
| Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 EW Jabs, X Li, AF Scott, G Meyers, W Chen, M Eccles, J Mao, LR Charnas, ... Nature genetics 8 (3), 275-279, 1994 | 582 | 1994 |
| Isolation of an active human transposable element BA Dombroski, SL Mathias, E Nanthakumar, AF Scott, HH Kazazian Jr Science 254 (5039), 1805-1808, 1991 | 543 | 1991 |
| Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ... The American Journal of Human Genetics 100 (6), 895-906, 2017 | 532 | 2017 |
| Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence AF Scott, BJ Schmeckpeper, M Abdelrazik, CT Comey, B O'Hara, ... Genomics 1 (2), 113-125, 1987 | 393 | 1987 |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci KU Ludwig, E Mangold, S Herms, S Nowak, H Reutter, A Paul, J Becker, ... Nature genetics 44 (9), 968-971, 2012 | 389 | 2012 |
| Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm AJ Doyle, JJ Doyle, SL Bessling, S Maragh, ME Lindsay, D Schepers, ... Nature genetics 44 (11), 1249-1254, 2012 | 312 | 2012 |
| Clinical validity of genes for heritable thoracic aortic aneurysm and dissection M Renard, C Francis, R Ghosh, AF Scott, PD Witmer, LC Adès, ... Journal of the American College of Cardiology 72 (6), 605-615, 2018 | 273 | 2018 |
| beta-Thalassemia in American Blacks: novel mutations in the" TATA" box and an acceptor splice site. SE Antonarakis, SH Irkin, TC Cheng, AF Scott, JP Sexton, SP Trusko, ... Proceedings of the National Academy of Sciences 81 (4), 1154-1158, 1984 | 269 | 1984 |
