Daniel G MacArthur

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Coauteurs

Monkol LekYale University School of MedicineAdresse e-mail validée de yale.edu
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteAdresse e-mail validée de atgu.mgh.harvard.edu
Konrad KarczewskiComputational Biologist, Broad InstituteAdresse e-mail validée de broadinstitute.org
Beryl CummingsBroad InstituteAdresse e-mail validée de broadinstitute.org
Seto JTMurdoch Childrens Research Institute, University of MelbourneAdresse e-mail validée de mcri.edu.au
Kaitlin E. SamochaWellcome Sanger InstituteAdresse e-mail validée de sanger.ac.uk
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and HarvardAdresse e-mail validée de broadinstitute.org
Ana TopfNewcastle UniversityAdresse e-mail validée de ncl.ac.uk
Dr Kate QuinlanSenior Lecturer, The University of New South WalesAdresse e-mail validée de unsw.edu.au
Volker StraubNewcastle UniversityAdresse e-mail validée de ncl.ac.uk
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and HarvardAdresse e-mail validée de broadinstitute.org
Benjamin NealeAssociate Professor, Analytic and Translational Genetics Unit, Massachusetts General HospitalAdresse e-mail validée de broadinstitute.org
James WareReader in Genomic Medicine, Imperial College LondonAdresse e-mail validée de imperial.ac.uk
Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchAdresse e-mail validée de uwa.edu.au
Alan H. BeggsProfessor of Pediatrics, Harvard Medical SchoolAdresse e-mail validée de enders.tch.harvard.edu
Tuuli LappalainenNew York Genome Center & Columbia UniversityAdresse e-mail validée de nygenome.org
Simon EastealAustralian National UniversityAdresse e-mail validée de anu.edu.au
Nicola WhiffinUniversity of OxfordAdresse e-mail validée de well.ox.ac.uk
Jack A. KosmickiHarvard UniversityAdresse e-mail validée de fas.harvard.edu
Anthony John KeeSenior Research Fellow, School of Medical Sciences, University of New South WalesAdresse e-mail validée de unsw.edu.au

Daniel G MacArthur

Garvan Institute of Medical Research, Murdoch Children's Research Institute

Adresse e-mail validée de atgu.mgh.harvard.edu - Page d'accueil

genomics genetics


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	7261	2010
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	7146	2016
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68-74, 2015	7066	2015
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56-65, 2012	6760	2012
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	3738	2013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans GTEx Consortium Science 348 (6235), 648-660, 2015	2774	2015
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	1920	2010
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	1484	2013
Genetic effects on gene expression across human tissues GTEx Consortium Nature 550 (7675), 204-213, 2017	1480	2017
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	1255*	2020
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	1083	2012
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	1054	2014
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	991	2003
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	753	2014
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	541	2011
Genes and human elite athletic performance DG MacArthur, KN North Human genetics 116 (5), 331-339, 2005	489	2005
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	481	2016
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	481	2011
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	377	2017
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	372	2014

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