Theo dõi
Greg Cooper
Greg Cooper
Faculty Investigator, HudsonAlpha Institute for Biotechnology
Email được xác minh tại hudsonalpha.org - Trang chủ
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
66602014
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
61052007
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
33852019
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
25612004
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
24602004
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
21782008
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
19702010
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
16722010
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
16562008
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
16462005
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
14972011
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
14512014
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
14512008
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
13852003
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
10682015
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
7342011
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
7302009
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
6762010
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
6752008
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
6552016
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