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
84202015
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
78812016
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
74792010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
70632012
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
43312013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
31342015
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
2382*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
19702010
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
16132013
Genetic effects on gene expression across human tissues.
A Battle, CD Brown, BE Engelhardt, SB Montgomery
Nature 550 (7675), 204-213, 2017
1565*2017
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
11342012
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
11142014
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
10392003
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
8012014
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
5872016
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
5762011
Genes and human elite athletic performance
DG MacArthur, KN North
Human genetics 116 (5), 331-339, 2005
5502005
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
5002011
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
4352017
The ExAC browser: displaying reference data information from over 60 000 exomes
KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ...
Nucleic acids research 45 (D1), D840-D845, 2017
4032017
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