Monkol Lek
Monkol Lek
Yale University School of Medicine
Verified email at yale.edu
Title
Cited by
Cited by
Year
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
67512016
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
66082012
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68-74, 2015
64582015
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
GTEx Consortium
Science 348 (6235), 648-660, 2015
26182015
Transcriptome and genome sequencing uncovers functional variation in humans
T Lappalainen, M Sammeth, MR Friedländer, P Ac‘t Hoen, J Monlong, ...
Nature 501 (7468), 506-511, 2013
14302013
Genetic effects on gene expression across human tissues
GTEx Consortium
Nature 550 (7675), 204-213, 2017
12672017
The UK10K project identifies rare variants in health and disease
UK10K consortium
Nature 526 (7571), 82-90, 2015
6822015
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
BioRxiv, 531210, 2019
5722019
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
4352016
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ...
PLoS Genet 6 (2), e1000841, 2010
3872010
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico
SIGMA Type 2 Diabetes Consortium
Nature 506 (7486), 97-101, 2014
3532014
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
2882017
Distribution and medical impact of loss-of-function variants in the Finnish founder population
ET Lim, P Würtz, AS Havulinna, P Palta, T Tukiainen, K Rehnström, ...
PLoS Genet 10 (7), e1004494, 2014
2802014
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
2642017
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini, GA McVean, P Donnelly, G Lunter, JL Marchini, ...
Nature communications 5, 3934, 2014
2432014
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
ET Lim, S Raychaudhuri, SJ Sanders, C Stevens, A Sabo, DG MacArthur, ...
Neuron 77 (2), 235-242, 2013
2262013
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
2232015
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
2122017
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
2092020
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
2032016
The system can't perform the operation now. Try again later.
Articles 1–20