Prati
Daniel G MacArthur
Daniel G MacArthur
Garvan Institute of Medical Research, Murdoch Children's Research Institute
Potvrđena adresa e-pošte na atgu.mgh.harvard.edu - Početna stranica
Naslov
Citirano
Citirano
Godina
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
159362015
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
106972016
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
9130*2020
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89112010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85352012
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
81782013
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
47792015
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
35612017
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium
Science 369 (6509), 1318-1330, 2020
30982020
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
22952010
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
21162013
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
15352017
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
14392014
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
14172012
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
12902003
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
11372016
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
11272014
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
9312017
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
8982020
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
8132020
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