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Monkol Lek | Researchclopedia

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Monkol Lek

Broad Institute

46

Works

29,839

Citations

28

h-index

32

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic Associations and Epidemiology

Affiliations

Broad Institute2016–2025

University of Maryland, Baltimore2015–2015

Pacific Northwest Diabetes Research Institute2025–2025

University of Sydney2009–2013

Centre for Human Genetics2015–2025

Top Works

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek,Konrad J. Karczewski,et al.

201610,248 citations

Genomics and Phylogenetic Studies

Epigenetics and DNA Methylation

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20209,878 citations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20191,767 citations

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson,Ann M. Flenniken,et al.

20161,279 citations

The UK10K project identifies rare variants in health and disease

Writing group,Klaudia Walter,et al.

20151,182 citations

The ExAC browser: displaying reference data information from over 60 000 exomes

Konrad J. Karczewski,Ben Weisburd,et al.

2016820 citations

Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel,Sonia M. Vallabh,et al.

2016463 citations

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Jack A. Kosmicki,Kaitlin E. Samocha,et al.

2017364 citations

Health and population effects of rare gene knockouts in adult humans with related parents

Vagheesh M. Narasimhan,Karen A. Hunt,et al.

2016310 citations