Daniel G MacArthur

Cited by

	All	Since 2016
Citations	62710	46998
h-index	75	71
i10-index	162	151

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2009201020112012201320142015201620172018201920202021210 488 1336 1771 2632 3750 4605 5629 7730 9062 10272 11849 2395

Co-authors

Monkol LekYale University School of MedicineVerified email at yale.edu
Konrad KarczewskiComputational Biologist, Broad InstituteVerified email at broadinstitute.org
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteVerified email at atgu.mgh.harvard.edu
Beryl CummingsBroad InstituteVerified email at broadinstitute.org
Seto JTMurdoch Childrens Research Institute, University of MelbourneVerified email at mcri.edu.au
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and HarvardVerified email at broadinstitute.org
Kaitlin E. SamochaWellcome Sanger InstituteVerified email at sanger.ac.uk
Ana TopfNewcastle UniversityVerified email at ncl.ac.uk
Volker StraubNewcastle UniversityVerified email at ncl.ac.uk
Dr Kate QuinlanSenior Lecturer, The University of New South WalesVerified email at unsw.edu.au
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and HarvardVerified email at broadinstitute.org
James WareReader in Genomic Medicine, Imperial College LondonVerified email at imperial.ac.uk
Benjamin NealeAssociate Professor, Analytic and Translational Genetics Unit, Massachusetts General HospitalVerified email at broadinstitute.org
Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchVerified email at uwa.edu.au
Alan H. BeggsProfessor of Pediatrics, Harvard Medical SchoolVerified email at enders.tch.harvard.edu
Tuuli LappalainenNew York Genome Center & Columbia UniversityVerified email at nygenome.org
Nicola WhiffinUniversity of OxfordVerified email at well.ox.ac.uk
Simon EastealAustralian National UniversityVerified email at anu.edu.au
Richard DurbinDept of Genetics, University of CambridgeVerified email at cam.ac.uk
Taru TukiainenInstitute for Molecular Medicine FinlandVerified email at helsinki.fi

Daniel G MacArthur

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

Verified email at atgu.mgh.harvard.edu - Homepage

genomics genetics


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	7494*	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	7329	2016
A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	7317	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	6829	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	3898	2013
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans GTEx Consortium Science 348 (6235), 648-660, 2015	2900	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	1933	2010
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	1618*	2020
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	1515	2013
Genetic effects on gene expression across human tissues GTEx Consortium Nature 550 (7675), 204, 2017	1311	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	1089	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	1065	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	1003	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	766	2014
Genes and human elite athletic performance DG MacArthur, KN North Human genetics 116 (5), 331-339, 2005	613	2005
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	555	2011
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	520	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	486	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	404	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, 2014	376	2014

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