Daniel G MacArthur
Daniel G MacArthur
Garvan Institute of Medical Research, Murdoch Children's Research Institute
Verified email at atgu.mgh.harvard.edu - Homepage
Title
Cited by
Cited by
Year
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
7945*2015
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
75752016
A map of human genome variation from population-scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
73992010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
69522012
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
40812013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
29972015
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
1969*2020
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
19542010
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
15562013
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204, 2017
13972017
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
11122012
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
10942014
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
10202003
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
7812014
Genes and human elite athletic performance
DG MacArthur, KN North
East African Running, 241-257, 2007
6162007
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
5672011
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
5512016
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
4902011
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
4172017
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
3892014
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