Konrad Karczewski

Citirano

	Sve	Od 2018.
Citati	50424	37306
H-indeks	58	49
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Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstitutePotvrđena adresa e-pošte na atgu.mgh.harvard.edu
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstitutePotvrđena adresa e-pošte na atgu.mgh.harvard.edu
Benjamin NealeAssociate Professor, Analytic and Translational Genetics Unit, Massachusetts General HospitalPotvrđena 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
Kaitlin E. SamochaMassachusetts General HospitalPotvrđena adresa e-pošte na partners.org
Russ B AltmanProfessor Stanford UniversityPotvrđena adresa e-pošte na stanford.edu
Monkol LekYale University School of MedicinePotvrđena adresa e-pošte na yale.edu
Alan P BoyleAssociate Professor, University of MichiganPotvrđena adresa e-pošte na umich.edu
J. Michael CherryStanford University, Department of GeneticsPotvrđena adresa e-pošte na stanford.edu
Nicola WhiffinUniversity of OxfordPotvrđena adresa e-pošte na well.ox.ac.uk
Atul J. ButteDirector, Bakar Computational Health Sciences Institute, University of California, San FranciscoPotvrđena adresa e-pošte na ucsf.edu
Manoj HariharanSalk InstitutePotvrđena adresa e-pošte na salk.edu
Nicholas P TatonettiVice Chair of Computational Biomedicine; Associate Director of Cancer Center, Cedars-SinaiPotvrđena adresa e-pošte na cshs.org
Mark GersteinProfessor of Biomedical Informatics, Yale UniversityPotvrđena adresa e-pošte na yale.edu
Joel DudleyInstitute Director and Associate Professor, Icahn School of Medicine at Mount SinaiPotvrđena adresa e-pošte na mssm.edu
Roxana DaneshjouMD/Ph.D, Dermatology Clinical Scholar, Stanford UniversityPotvrđena adresa e-pošte na stanford.edu
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad InstitutePotvrđena adresa e-pošte na broadinstitute.org
Jack A. KosmickiRegeneron Genetics CenterPotvrđena adresa e-pošte na fas.harvard.edu
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonPotvrđena adresa e-pošte na imperial.ac.uk
Stephen B MontgomeryAssociate Professor, Pathology and Genetics, Stanford UniversityPotvrđena adresa e-pošte na stanford.edu

Prati

Konrad Karczewski

Computational Biologist, Broad Institute

Potvrđena adresa e-pošte na broadinstitute.org - Početna stranica

Computational Biology Functional Genomics Translational Bioinformatics


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature, 2012	12855	2012
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	9489	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	6305*	2020
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	2910	2017
Annotation of functional variation in personal genomes using RegulomeDB AP Boyle, EL Hong, M Hariharan, Y Cheng, MA Schaub, M Kasowski, ... Genome research 22 (9), 1790-1797, 2012	2579	2012
Personal omics profiling reveals dynamic molecular and medical phenotypes R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam, R Chen, E Miriami, ... Cell 148 (6), 1293-1307, 2012	1302	2012
The UK10K project identifies rare variants in health and disease Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ... Nature 526 (7571), 82-90, 2015	1011	2015
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	706	2017
Variation in transcription factor binding among humans M Kasowski, F Grubert, C Heffelfinger, M Hariharan, A Asabere, ... science 328 (5975), 232-235, 2010	693	2010
Mendelian randomization of blood lipids for coronary heart disease MV Holmes, FW Asselbergs, TM Palmer, F Drenos, MB Lanktree, ... European heart journal 36 (9), 539-550, 2015	689	2015
Integrative omics for health and disease KJ Karczewski, MP Snyder Nature Reviews Genetics 19 (5), 299-310, 2018	687	2018
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ... Science 350 (6265), 1262-1266, 2015	659	2015
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	619	2017
Performance comparison of exome DNA sequencing technologies MJ Clark, R Chen, HYK Lam, KJ Karczewski, R Chen, G Euskirchen, ... Nature biotechnology 29 (10), 908-914, 2011	573	2011
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017	559	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	553*	2020
Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021	516	2021
Dynamic landscape and regulation of RNA editing in mammals MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ... Nature 550 (7675), 249-254, 2017	456	2017
Using high-resolution variant frequencies to empower clinical genome interpretation N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, ... Genetics in Medicine 19 (10), 1151-1158, 2017	357	2017
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015	356	2015

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