| Exome sequencing identifies the cause of a mendelian disorder SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ... Nature genetics 42 (1), 30-35, 2010 | 2523 | 2010 |
| Human dopamine transporter gene (DAT1) maps to chromosome 5p15. 3 and displays a VNTR DJ Vandenbergh, AM Persico, AL Hawkins, CA Griffin, X Li, EW Jabs, ... Genomics 14 (4), 1104-1106, 1992 | 939 | 1992 |
| A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis EW Jabs, U Müller, X Li, L Ma, W Luo, IS Haworth, I Klisak, R Sparkes, ... Cell 75 (3), 443-450, 1993 | 798 | 1993 |
| Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome TD Howard, WA Paznekas, ED Green, LC Chiang, N Ma, RIOD Luna, ... Nature genetics 15 (1), 36-41, 1997 | 773 | 1997 |
| Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia WA Paznekas, SA Boyadjiev, RE Shapiro, O Daniels, B Wollnik, ... The American Journal of Human Genetics 72 (2), 408-418, 2003 | 722 | 2003 |
| Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (Nat. Genet.(2010) 42 (525-529)) TH Beaty, JC Murray, ML Marazita, RG Munger, IRJB Hetmanski, ... Nature genetics 42 (8), 727, 2010 | 666* | 2010 |
| A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (vol 42, pg 525, 2010) TH Beaty, JC Murray, ML Marazita, RG Munger, IRJB Hetmanski, ... Nature Genetics 42 (8), 727-727, 2010 | 666* | 2010 |
| 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 | 662 | 2010 |
| Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. TR Sutter, YM Tang, CL Hayes, YYP Wo, EW Jabs, X Li, H Yin, CW Cody, ... Journal of Biological Chemistry 269 (18), 13092-13099, 1994 | 655 | 1994 |
| 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 | 568 | 1994 |
| Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome CE Flück, T Tajima, AV Pandey, W Arlt, K Okuhara, CF Verge, EW Jabs, ... Nature genetics 36 (3), 228-230, 2004 | 521 | 2004 |
| Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm AJ Wyrobek, B Eskenazi, S Young, N Arnheim, I Tiemann-Boege, ... Proceedings of the National Academy of Sciences 103 (25), 9601-9606, 2006 | 504 | 2006 |
| Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1 JH Cho, DL Nicolae, LH Gold, CT Fields, MC LaBuda, PM Rohal, ... Proceedings of the National Academy of Sciences 95 (13), 7502-7507, 1998 | 473 | 1998 |
| Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans GA Meyers, SJ Orlow, IR Munro, KA Przylepa, EW Jabs Nature genetics 11 (4), 462-464, 1995 | 468 | 1995 |
| Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome G Richard, F Rouan, CE Willoughby, N Brown, P Chung, M Ryynänen, ... The American Journal of Human Genetics 70 (5), 1341-1348, 2002 | 446 | 2002 |
| Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion H Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara, M Yamada, ... Nature genetics 37 (5), 468-470, 2005 | 424 | 2005 |
| Clinical spectrum of fibroblast growth factor receptor mutations MR Passos‐Bueno, WR Wilcox, EW Jabs, AL Sertie, LG Alonso, H Kitoh Human mutation 14 (2), 115-125, 1999 | 370 | 1999 |
| Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis N Huang, AV Pandey, V Agrawal, W Reardon, PD Lapunzina, D Mowat, ... The American Journal of Human Genetics 76 (5), 729-749, 2005 | 355 | 2005 |
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ... Human molecular genetics 10 (15), 1591-1600, 2001 | 319 | 2001 |
| Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. WJ Park, C Theda, NE Maestri, GA Meyers, JS Fryburg, C Dufresne, ... American journal of human genetics 57 (2), 321, 1995 | 316 | 1995 |
