| Integrating common and rare genetic variation in diverse human populations International HapMap 3 Consortium Nature 467 (7311), 52, 2010 | 3202 | 2010 |
| Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DCY Chen, ... New England Journal of Medicine 362 (13), 1181-1191, 2010 | 918 | 2010 |
| Human genome sequencing in health and disease C Gonzaga-Jauregui, JR Lupski, RA Gibbs Annual review of medicine 63 (1), 35-61, 2012 | 570 | 2012 |
| Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ... Science 354 (6319), aaf6814, 2016 | 562 | 2016 |
| Exome sequencing and characterization of 49,960 individuals in the UK Biobank CV Van Hout, I Tachmazidou, JD Backman, JD Hoffman, D Liu, ... Nature 586 (7831), 749-756, 2020 | 514* | 2020 |
| Genetic identification of familial hypercholesterolemia within a single US health care system NS Abul-Husn, K Manickam, LK Jones, EA Wright, DN Hartzel, ... Science 354 (6319), aaf7000, 2016 | 428 | 2016 |
| COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ... Nature genetics 47 (6), 654-660, 2015 | 355 | 2015 |
| Whole-genome sequencing for optimized patient management MN Bainbridge, W Wiszniewski, DR Murdock, J Friedman, ... Science translational medicine 3 (87), 87re3-87re3, 2011 | 352 | 2011 |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 305 | 2015 |
| Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy C Gonzaga-Jauregui, T Harel, T Gambin, M Kousi, LB Griffin, ... Cell reports 12 (7), 1169-1183, 2015 | 248 | 2015 |
| Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome CMB Carvalho, MB Ramocki, D Pehlivan, LM Franco, ... Nature genetics 43 (11), 1074-1081, 2011 | 214 | 2011 |
| Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function E Karaca, S Weitzer, D Pehlivan, H Shiraishi, T Gogakos, T Hanada, ... Cell 157 (3), 636-650, 2014 | 212 | 2014 |
| Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 185 | 2015 |
| Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy JR Lupski, C Gonzaga-Jauregui, Y Yang, MN Bainbridge, S Jhangiani, ... Genome medicine 5, 1-17, 2013 | 164 | 2013 |
| Assessing structural variation in a personal genome—towards a human reference diploid genome AC English, WJ Salerno, OA Hampton, C Gonzaga-Jauregui, S Ambreth, ... BMC genomics 16, 1-15, 2015 | 160 | 2015 |
| Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability F Zhang, P Seeman, P Liu, MAJ Weterman, C Gonzaga-Jauregui, ... The American Journal of Human Genetics 86 (6), 892-903, 2010 | 150 | 2010 |
| Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome MF Wangler, C Gonzaga-Jauregui, T Gambin, S Penney, T Moss, ... PLoS genetics 10 (3), e1004258, 2014 | 133 | 2014 |
| NR2F1 mutations cause optic atrophy with intellectual disability DGM Bosch, FN Boonstra, C Gonzaga-Jauregui, M Xu, J De Ligt, ... The American Journal of Human Genetics 94 (2), 303-309, 2014 | 131 | 2014 |
| High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution Y Hasin, T Olender, M Khen, C Gonzaga-Jauregui, PM Kim, AE Urban, ... PLoS genetics 4 (11), e1000249, 2008 | 131 | 2008 |
| Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease N Zhu, CL Welch, J Wang, PM Allen, C Gonzaga-Jauregui, L Ma, AK King, ... Genome medicine 10, 1-11, 2018 | 128 | 2018 |
James LupskiBaylor College of Medicine在 bcm.edu 的电子邮件经过验证
