| A general framework for estimating the relative pathogenicity of human genetic variants M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure Nature genetics 46 (3), 310-315, 2014 | 6609 | 2014 |
| Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project E Birney, JA Stamatoyannopoulos, A Dutta, R Guigó, TR Gingeras, ... Nature 447 (7146), 799-816, 2007 | 6109 | 2007 |
| CADD: predicting the deleteriousness of variants throughout the human genome P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher Nucleic acids research 47 (D1), D886-D894, 2019 | 3297 | 2019 |
| Genome sequence of the Brown Norway rat yields insights into mammalian evolution RA Gibbs, GM Weinstock, ML Metzker, DM Muzny, EJ Sodergren, ... Nature 428 (6982), 493-521, 2004 | 2590 | 2004 |
| The ENCODE(ENCyclopedia Of DNA Elements) Project EA Feingold, PJ Good, MS Guyer, S Kamholz, L Liefer, K Wetterstrand, ... Science(Washington) 306 (5696), 636-40, 2004 | 2459 | 2004 |
| Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ... science 320 (5875), 539-543, 2008 | 2169 | 2008 |
| Identifying a high fraction of the human genome to be under selective constraint using GERP++ EV Davydov, DL Goode, M Sirota, GM Cooper, A Sidow, S Batzoglou PLoS computational biology 6 (12), e1001025, 2010 | 1948 | 2010 |
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ... Nature genetics 42 (9), 790-793, 2010 | 1671 | 2010 |
| Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, ... Nature genetics 40 (2), 189-197, 2008 | 1661 | 2008 |
| Distribution and intensity of constraint in mammalian genomic sequence GM Cooper, EA Stone, G Asimenos, ED Green, S Batzoglou, A Sidow Genome research 15 (7), 901-913, 2005 | 1657 | 2005 |
| A copy number variation morbidity map of developmental delay GM Cooper, BP Coe, S Girirajan, JA Rosenfeld, TH Vu, C Baker, ... Nature genetics 43 (9), 838-846, 2011 | 1494 | 2011 |
| Guidelines for investigating causality of sequence variants in human disease DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ... Nature 508 (7497), 469-476, 2014 | 1453 | 2014 |
| Mapping and sequencing of structural variation from eight human genomes JM Kidd, GM Cooper, WF Donahue, HS Hayden, N Sampas, T Graves, ... Nature 453 (7191), 56-64, 2008 | 1450 | 2008 |
| LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA M Brudno, CB Do, GM Cooper, MF Kim, E Davydov, ED Green, A Sidow, ... Genome research 13 (4), 721-731, 2003 | 1386 | 2003 |
| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1060 | 2015 |
| Population analysis of large copy number variants and hotspots of human genetic disease A Itsara, GM Cooper, C Baker, S Girirajan, J Li, D Absher, RM Krauss, ... The American Journal of Human Genetics 84 (2), 148-161, 2009 | 728 | 2009 |
| Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data GM Cooper, J Shendure Nature Reviews Genetics 12 (9), 628-640, 2011 | 723 | 2011 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 682 | 2010 |
| A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008 | 670 | 2008 |
| Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ... The American Journal of Human Genetics 98 (6), 1067-1076, 2016 | 645 | 2016 |
Jay ShendureProfessor of Genome Sciences, University of Washington在 uw.edu 的电子邮件经过验证
