Daniel G MacArthur

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	전체	2019년 이후
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Monkol LekYale University School of Medicineyale.edu의 이메일 확인됨
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad Instituteatgu.mgh.harvard.edu의 이메일 확인됨
Konrad KarczewskiAssistant in Investigation, Massachusetts General Hospital; Computational Biologist, Broad Institutebroadinstitute.org의 이메일 확인됨
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvardbroadinstitute.org의 이메일 확인됨
Benjamin NealeMassachusetts General Hospital; Broad Institute; Harvard Medical Schoolbroadinstitute.org의 이메일 확인됨
Seto JTMurdoch Childrens Research Institute, University of Melbournemcri.edu.au의 이메일 확인됨
Kaitlin E. SamochaMassachusetts General Hospitalpartners.org의 이메일 확인됨
Volker StraubNewcastle Universityncl.ac.uk의 이메일 확인됨
Ana TopfNewcastle Universityncl.ac.uk의 이메일 확인됨
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College Londonimperial.ac.uk의 이메일 확인됨
Professor Kate QuinlanThe University of New South Walesunsw.edu.au의 이메일 확인됨
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and Harvardbroadinstitute.org의 이메일 확인됨
Nicola WhiffinUniversity of Oxfordwell.ox.ac.uk의 이메일 확인됨
Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical Researchuwa.edu.au의 이메일 확인됨
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton Centerenders.tch.harvard.edu의 이메일 확인됨
Ben WeisburdComputational Scientist @ the Broad Institutebroadinstitute.org의 이메일 확인됨
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad Institutebroadinstitute.org의 이메일 확인됨
Tuuli LappalainenSciLifeLab, KTH Royal Institute of Technology & New York Genome Centernygenome.org의 이메일 확인됨
Jack A. KosmickiRegeneron Genetics Centerfas.harvard.edu의 이메일 확인됨
Simon EastealAustralian National Universityanu.edu.au의 이메일 확인됨

팔로우

Daniel G MacArthur

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

atgu.mgh.harvard.edu의 이메일 확인됨 - 홈페이지

genomics genetics


제목 서지정보순 정렬 연도순 정렬 제목순 정렬	인용 인용	연도
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	14723*	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	10312	2016
A map of human genome variation from population scale sequencing 1000 Genomes Project Consortium Nature 467 (7319), 1061, 2010	8770	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8262	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	8195*	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	7592	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	4563	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	3346	2017
The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020	2509	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	2245	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	2047	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	1389	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	1369	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	1361	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	1263	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	1073	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	1066	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	840	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	782*	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	730	2017

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