Konrad Karczewski

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	전체	2020년 이후
서지정보	67067	40510
h-index	63	54
i10-index	101	95

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Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad Instituteatgu.mgh.harvard.edu의 이메일 확인됨
Benjamin NealeMassachusetts General Hospital; Broad Institute; Harvard Medical Schoolbroadinstitute.org의 이메일 확인됨
Anne O'Donnell-LuriaCo-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvardbroadinstitute.org의 이메일 확인됨
Kaitlin E. SamochaMassachusetts General Hospitalpartners.org의 이메일 확인됨
Russ B AltmanProfessor Stanford Universitystanford.edu의 이메일 확인됨
Monkol LekYale University School of Medicineyale.edu의 이메일 확인됨
Nicola WhiffinUniversity of Oxfordwell.ox.ac.uk의 이메일 확인됨
Alan P BoyleAssociate Professor, University of Michiganumich.edu의 이메일 확인됨
J. Michael CherryStanford University, Department of Geneticsstanford.edu의 이메일 확인됨
Masahiro KanaiHarvard Medical School, Broad Institute, Massachusetts General Hospitalbroadinstitute.org의 이메일 확인됨
Elise RobinsonAssistant Professor of Psychiatry, Massachusetts General Hospital and Harvard Medical Schoolbroadinstitute.org의 이메일 확인됨
Atul J. ButteDirector, Bakar Computational Health Sciences Institute, University of California, San Franciscoucsf.edu의 이메일 확인됨
Nicholas P TatonettiProfessor and Vice Chair of Computational Biomedicine, Cedars-Sinai Medical Centercshs.org의 이메일 확인됨
Roxana Daneshjou, MD, PhDAssistant Professor of Biomedical Data Science and Dermatology, Stanford Universitystanford.edu의 이메일 확인됨
Joel DudleyInstitute Director and Associate Professor, Icahn School of Medicine at Mount Sinaimssm.edu의 이메일 확인됨
Mark GersteinProfessor of Biomedical Informatics, Yale Universityyale.edu의 이메일 확인됨
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford Universitystanford.edu의 이메일 확인됨
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College Londonimperial.ac.uk의 이메일 확인됨
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and Harvardbroadinstitute.org의 이메일 확인됨
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad Institutebroadinstitute.org의 이메일 확인됨

팔로우

Konrad Karczewski

Assistant Professor, Massachusetts General Hospital; Computational Biologist, Broad Institute

broadinstitute.org의 이메일 확인됨 - 홈페이지

Computational Biology Functional Genomics Translational Bioinformatics


제목 서지정보순 정렬 연도순 정렬 제목순 정렬	인용 인용	연도
An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium Nature, 2012	17529	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	10699	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	9530*	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	3644	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	2963	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	1429	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	1134	2015
Integrative omics for health and disease KJ Karczewski, MP Snyder Nature Reviews Genetics 19 (5), 299-310, 2018	1001	2018
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	988	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	943	2020
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	845	2015
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	843	2021
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	826	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	805	2017
A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024	732*	2024
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	725	2017
Variation in transcription factor binding among humans M Kasowski, F Grubert, C Heffelfinger, M Hariharan, A Asabere, ... science 328 (5975), 232-235, 2010	723	2010
Rare coding variants in ten genes confer substantial risk for schizophrenia T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ... Nature 604 (7906), 509-516, 2022	627	2022
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	612	2011
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	611	2017

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