Daniel G MacArthur

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Monkol LekYale University School of MedicinePotvrđena adresa e-pošte na yale.edu
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstitutePotvrđena adresa e-pošte na atgu.mgh.harvard.edu
Konrad KarczewskiAssistant Professor, Massachusetts General Hospital; Computational Biologist, Broad InstitutePotvrđena adresa e-pošte na broadinstitute.org
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and HarvardPotvrđena adresa e-pošte na broadinstitute.org
Benjamin NealeMassachusetts General Hospital; Broad Institute; Harvard Medical SchoolPotvrđena adresa e-pošte na broadinstitute.org
Seto JTMurdoch Childrens Research Institute, University of MelbournePotvrđena adresa e-pošte na mcri.edu.au
Kaitlin E. SamochaMassachusetts General HospitalPotvrđena adresa e-pošte na partners.org
Volker StraubNewcastle UniversityPotvrđena adresa e-pošte na ncl.ac.uk
Ana TopfNewcastle UniversityPotvrđena adresa e-pošte na ncl.ac.uk
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonPotvrđena adresa e-pošte na imperial.ac.uk
Professor Kate QuinlanThe University of New South WalesPotvrđena adresa e-pošte na unsw.edu.au
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and HarvardPotvrđena adresa e-pošte na broadinstitute.org
Nicola WhiffinUniversity of OxfordPotvrđena adresa e-pošte na well.ox.ac.uk
Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchPotvrđena adresa e-pošte na uwa.edu.au
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterPotvrđena adresa e-pošte na enders.tch.harvard.edu
Ben WeisburdComputational Scientist @ the Broad InstitutePotvrđena adresa e-pošte na broadinstitute.org
Tuuli LappalainenSciLifeLab, KTH Royal Institute of Technology & New York Genome CenterPotvrđena adresa e-pošte na nygenome.org
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad InstitutePotvrđena adresa e-pošte na broadinstitute.org
Richard DurbinDept of Genetics, University of CambridgePotvrđena adresa e-pošte na cam.ac.uk
Jack A. KosmickiRegeneron Genetics CenterPotvrđena adresa e-pošte na fas.harvard.edu

Prati

Daniel G MacArthur

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

Potvrđena adresa e-pošte na atgu.mgh.harvard.edu - Početna stranica

genomics genetics


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015	15936	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	10697	2016
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	8911	2010
An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012	8535	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	8178	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	4779	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	3561	2017
The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020	3098	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	2295	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	2116	2013
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	1535	2017
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	1439	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	1417	2012
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	1290	2003
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	1137	2016
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	1127	2014
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	931	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	898	2020
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	813	2020

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