Daniel G MacArthur
Daniel G MacArthur
Analytic and Translational Genetics Unit, Massachusetts General Hospital
Dirección de correo verificada de atgu.mgh.harvard.edu - Página principal
TítuloCitado porAño
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
65222010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
58652012
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285, 2016
48182016
The genotype-tissue expression (GTEx) project
J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ...
Nature genetics 45 (6), 580, 2013
23942013
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
18962015
Origins and functional impact of copy number variation in the human genome
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...
Nature 464 (7289), 704, 2010
17322010
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P AC‘t Hoen, J Monlong, ...
Nature 501 (7468), 506, 2013
11772013
A systematic survey of loss-of-function variants in human protein-coding genes
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...
Science 335 (6070), 823-828, 2012
9112012
Guidelines for investigating causality of sequence variants in human disease
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...
Nature 508 (7497), 469, 2014
8862014
ACTN3 genotype is associated with human elite athletic performance
N Yang, DG MacArthur, JP Gulbin, AG Hahn, AH Beggs, S Easteal, ...
The American Journal of Human Genetics 73 (3), 627-631, 2003
8662003
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204, 2017
6432017
A framework for the interpretation of de novo mutation in human disease
KE Samocha, EB Robinson, SJ Sanders, C Stevens, A Sabo, LM McGrath, ...
Nature genetics 46 (9), 944, 2014
5512014
Dindel: accurate indel calls from short-read data
CA Albers, G Lunter, DG MacArthur, G McVean, WH Ouwehand, R Durbin
Genome research 21 (6), 961-973, 2011
4412011
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
4372011
Integrative annotation of variants from 1092 humans: application to cancer genomics
E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ...
Science 342 (6154), 1235587, 2013
2992013
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico
SIGMA Type 2 Diabetes Consortium
Nature 506 (7486), 97, 2014
2982014
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
JK White, AK Gerdin, NA Karp, E Ryder, M Buljan, JN Bussell, J Salisbury, ...
Cell 154 (2), 452-464, 2013
2882013
Genes and human elite athletic performance
DG MacArthur, KN North
Human genetics 116 (5), 331-339, 2005
2812005
A gene for speed? The evolution and function of α‐actinin‐3
DG MacArthur, KN North
Bioessays 26 (7), 786-795, 2004
2672004
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
DG MacArthur, JT Seto, JM Raftery, KG Quinlan, GA Huttley, JW Hook, ...
Nature genetics 39 (10), 1261, 2007
2652007
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20