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Daniel G MacArthur
Daniel G MacArthur
Garvan Institute of Medical Research, Murdoch Children's Research Institute
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Title
Cited by
Cited by
Year
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
162942015
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
108052016
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
9412*2020
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89752010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85852012
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
83742013
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ...
Science 348 (6235), 648-660, 2015
48422015
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
36372017
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium
Science 369 (6509), 1318-1330, 2020
32712020
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
23062010
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
21302013
Scaling accurate genetic variant discovery to tens of thousands of samples
R Poplin, V Ruano-Rubio, MA DePristo, TJ Fennell, MO Carneiro, ...
BioRxiv, 201178, 2017
15842017
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
14522014
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
14272012
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
13052003
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
11492016
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
11482014
Landscape of X chromosome inactivation across human tissues
T Tukiainen, AC Villani, A Yen, MA Rivas, JL Marshall, R Satija, M Aguirre, ...
Nature 550 (7675), 244-248, 2017
9722017
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
9312020
The impact of sex on gene expression across human tissues
M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher, ADH Gewirtz, ...
Science 369 (6509), eaba3066, 2020
8612020
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