Daniel G MacArthur
Daniel G MacArthur
Analytic and Translational Genetics Unit, Massachusetts General Hospital
Verified email at atgu.mgh.harvard.edu - Homepage
Title
Cited by
Cited by
Year
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
71322010
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), 285-291, 2016
67512016
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
66082012
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68-74, 2015
64582015
The genotype-tissue expression (GTEx) project
J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ...
Nature genetics 45 (6), 580-585, 2013
33912013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
26182015
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), 704-712, 2010
18912010
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P Ac‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
14302013
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204-213, 2017
13042017
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
10382012
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
10272014
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
9562003
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
772*2020
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), 944-950, 2014
7302014
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
5222011
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
4722011
High-throughput discovery of novel developmental phenotypes
ME Dickinson, AM Flenniken, X Ji, L Teboul, MD Wong, JK White, ...
Nature 537 (7621), 508-514, 2016
4352016
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico
SIGMA Type 2 Diabetes Consortium
Nature 506 (7486), 97-101, 2014
3532014
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ...
Genetics in Medicine 19 (2), 192-203, 2017
3492017
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
3432013
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