| 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 | 2587 | 2010 |
| Genetic evidence for high-altitude adaptation in Tibet TS Simonson, Y Yang, CD Huff, H Yun, G Qin, DJ Witherspoon, Z Bai, ... Science 329 (5987), 72-75, 2010 | 1363 | 2010 |
| Analysis of genetic inheritance in a family quartet by whole-genome sequencing JC Roach, G Glusman, AFA Smit, CD Huff, R Hubley, PT Shannon, ... Science 328 (5978), 636-639, 2010 | 1320 | 2010 |
| A genetic mechanism for Tibetan high-altitude adaptation FR Lorenzo, C Huff, M Myllymäki, B Olenchock, S Swierczek, T Tashi, ... Nature genetics 46 (9), 951-956, 2014 | 443 | 2014 |
| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... Nature genetics 44 (9), 1030-1034, 2012 | 435 | 2012 |
| Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction DV Conti, BF Darst, LC Moss, EJ Saunders, X Sheng, A Chou, ... Nature genetics 53 (1), 65-75, 2021 | 405 | 2021 |
| Mobile elements create structural variation: analysis of a complete human genome J Xing, Y Zhang, K Han, AH Salem, SK Sen, CD Huff, Q Zhou, EF Kirkness, ... Genome research 19 (9), 1516-1526, 2009 | 398 | 2009 |
| A comprehensive map of mobile element insertion polymorphisms in humans C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ... PLoS genetics 7 (8), e1002236, 2011 | 326 | 2011 |
| Genomic diversity and evolution of the head crest in the rock pigeon MD Shapiro, Z Kronenberg, C Li, ET Domyan, H Pan, M Campbell, H Tan, ... Science 339 (6123), 1063-1067, 2013 | 308 | 2013 |
| Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency AF Rope, K Wang, R Evjenth, J Xing, JJ Johnston, JJ Swensen, ... The American Journal of Human Genetics 89 (1), 28-43, 2011 | 302 | 2011 |
| A probabilistic disease-gene finder for personal genomes M Yandell, C Huff, H Hu, M Singleton, B Moore, J Xing, LB Jorde, ... Genome research 21 (9), 1529-1542, 2011 | 268 | 2011 |
| Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families MV Singleton, SL Guthery, KV Voelkerding, K Chen, B Kennedy, ... The American Journal of Human Genetics 94 (4), 599-610, 2014 | 216 | 2014 |
| Maximum-likelihood estimation of recent shared ancestry (ERSA) CD Huff, DJ Witherspoon, TS Simonson, J Xing, WS Watkins, Y Zhang, ... Genome research 21 (5), 768-774, 2011 | 182 | 2011 |
| VAAST 2.0: Improved variant classification and disease‐gene identification using a conservation‐controlled amino acid substitution matrix H Hu, CD Huff, B Moore, S Flygare, MG Reese, M Yandell Genetic epidemiology 37 (6), 622-634, 2013 | 178 | 2013 |
| Association between birth defects and cancer risk among children and adolescents in a population-based assessment of 10 million live births PJ Lupo, JM Schraw, TA Desrosiers, WN Nembhard, PH Langlois, ... JAMA oncology 5 (8), 1150-1158, 2019 | 139 | 2019 |
| Variant annotation, analysis and selection tool MG Reese, M Yandell, C Huff, H Hu, M Moore US Patent App. 13/822,242, 2013 | 127 | 2013 |
| Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry … MCY Ng, M Graff, Y Lu, AE Justice, P Mudgal, CT Liu, K Young, LR Yanek, ... PLoS genetics 13 (4), e1006719, 2017 | 121 | 2017 |
| Early history of Neanderthals and Denisovans AR Rogers, RJ Bohlender, CD Huff Proceedings of the National Academy of Sciences 114 (37), 9859-9863, 2017 | 119 | 2017 |
| A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data H Hu, JC Roach, H Coon, SL Guthery, KV Voelkerding, RL Margraf, ... Nature biotechnology 32 (7), 663-669, 2014 | 118 | 2014 |
| Evolutionary history of Tibetans inferred from whole-genome sequencing H Hu, N Petousi, G Glusman, Y Yu, R Bohlender, T Tashi, JM Downie, ... PLoS genetics 13 (4), e1006675, 2017 | 111 | 2017 |
