| 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 | 3448 | 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 | 2446 | 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 | 1123 | 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 | 1071 | 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 | 915 | 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 | 834 | 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 | 832 | 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 | 784 | 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 | 701 | 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 | 661 | 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 | 576 | 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 | 542 | 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 | 535 | 2017 |
| 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 | 397 | 2012 |
| 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 |
| 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 | 313 | 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 |
| Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study TH Beaty, MA Taub, AF Scott, JC Murray, ML Marazita, H Schwender, ... Human genetics 132, 771-781, 2013 | 265 | 2013 |
