Konrad Karczewski
Konrad Karczewski
Computational Biologist, Broad Institute
Verified email at broadinstitute.org - Homepage
Title
Cited by
Cited by
Year
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature, 2012
11170*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
69722016
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
18952012
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204-213, 2017
13492017
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
10882012
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
1061*2020
The UK10K project identifies rare variants in health and disease
UK10K consortium
Nature 526 (7571), 82-90, 2015
7002015
Variation in transcription factor binding among humans
M Kasowski, F Grubert, C Heffelfinger, M Hariharan, A Asabere, ...
science 328 (5975), 232-235, 2010
6212010
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
4922011
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
4222015
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
3832015
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
3112017
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), 2017
2902017
Bioinformatics challenges for personalized medicine
GH Fernald, E Capriotti, R Daneshjou, KJ Karczewski, RB Altman
Bioinformatics 27 (13), 1741, 2011
2772011
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
2692017
Integrative omics for health and disease
KJ Karczewski, MP Snyder
Nature Reviews Genetics 19 (5), 299, 2018
2562018
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), 1-9, 2015
2282015
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
2242017
Quantifying prion disease penetrance using large population control cohorts
EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ...
Science translational medicine 8 (322), 322ra9-322ra9, 2016
2132016
Health and population effects of rare gene knockouts in adult humans with related parents
VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ...
Science 352 (6284), 474-477, 2016
1992016
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