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Konrad Karczewski
Konrad Karczewski
Computational Biologist, Broad Institute
Verified email at broadinstitute.org - Homepage
Title
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Cited by
Year
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature, 2012
124912012
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
92332016
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alf÷ldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
5625*2020
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet Franšois 1 Brown Andrew A. 2 3 4 Castel ...
Nature 550 (7675), 204-213, 2017
27702017
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
24792012
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
12862012
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
9792015
Variation in transcription factor binding among humans
M Kasowski, F Grubert, C Heffelfinger, M Hariharan, A Asabere, ...
science 328 (5975), 232-235, 2010
6822010
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
6562017
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
6552015
Integrative omics for health and disease
KJ Karczewski, MP Snyder
Nature Reviews Genetics 19 (5), 299-310, 2018
6162018
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
6162015
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
5822017
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
5632011
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
5202017
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alf÷ldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
482*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
4522021
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
4122017
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
3422015
Using high-resolution variant frequencies to empower clinical genome interpretation
N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ...
Genetics in Medicine 19 (10), 1151-1158, 2017
3372017
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