Daniel G MacArthur

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Monkol LekYale University School of MedicineVerified email at yale.edu
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteVerified email at atgu.mgh.harvard.edu
Konrad KarczewskiAssistant in Investigation, Massachusetts General Hospital; Computational Biologist, Broad InstituteVerified email at broadinstitute.org
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and HarvardVerified email at broadinstitute.org
Benjamin NealeMassachusetts General Hospital; Broad Institute; Harvard Medical SchoolVerified email at broadinstitute.org
Ana TopfNewcastle UniversityVerified email at ncl.ac.uk
Seto JTMurdoch Childrens Research Institute, University of MelbourneVerified email at mcri.edu.au
Kaitlin E. SamochaMassachusetts General HospitalVerified email at partners.org
Volker StraubNewcastle UniversityVerified email at ncl.ac.uk
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonVerified email at imperial.ac.uk
Professor Kate QuinlanThe University of New South WalesVerified email at unsw.edu.au
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and HarvardVerified email at broadinstitute.org
Nicola WhiffinUniversity of OxfordVerified email at well.ox.ac.uk
Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchVerified email at uwa.edu.au
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterVerified email at enders.tch.harvard.edu
Ben WeisburdComputational Scientist @ the Broad InstituteVerified email at broadinstitute.org
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad InstituteVerified email at broadinstitute.org
Tuuli LappalainenSciLifeLab, KTH Royal Institute of Technology & New York Genome CenterVerified email at nygenome.org
Jack A. KosmickiRegeneron Genetics CenterVerified email at fas.harvard.edu
Simon EastealAustralian National UniversityVerified email at anu.edu.au

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	14531*	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	10250	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	8736	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8228	2012
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	8033*	2020
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	7492	2013
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	4528	2015
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	3308	2017
The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020	2427	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	2240	2010
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	2039	2013
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	1382	2014
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	1359	2012
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	1339	2017
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	1258	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	1067	2014
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	1059	2016
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	829	2017
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	760*	2020
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	723	2017

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