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D-Index & Metrics

Genetics

D-Index
73
Citations
89518
World Ranking
1991
National Ranking
906

Overview

Monkol Lek is a researcher affiliated with Yale University in the United States. Their work centers primarily on Biochemistry, Genetics, and Molecular Biology, contributing extensively across related subfields such as Molecular Biology, Genetics, Clinical Biochemistry, Cardiology and Cardiovascular Medicine, and Cancer Research. The scientist's research covers diverse topics including Genomics and Rare Diseases, Muscle Physiology and Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, RNA modifications and cancer, RNA and protein synthesis mechanisms, and Neurogenetic and Muscular Disorders Research.

Their recent publications include the following papers:

  • "Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function," 2022, Science
  • "Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy," 2023, New England Journal of Medicine
  • "Mitochondrial DNA variation across 56,434 individuals in gnomAD," 2022, Genome Research
  • "Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness," 2020, Genetics in Medicine
  • "Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy," 2020, Science Translational Medicine

Monkol Lek frequently collaborates with several co-authors, including:

  • Nicole J. Lake
  • Daniel G. MacArthur
  • Angela Lek
  • Kristen M. Laricchia
  • Shushu Huang

The scientist's work has appeared in several publication venues multiple times. The most frequent venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Disease Models & Mechanisms
  • Nature Communications
  • Neuromuscular Disorders
  • Genetics in Medicine

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

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

    Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

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

    Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

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

    Konrad J. Karczewski;em> ..] Laurent C. Francioli;Daniel G. MacArthur

  • The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

    Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè

  • Genetic effects on gene expression across human tissues.

    Enhancing GTEx (eGTEx) groups

  • Transcriptome and genome sequencing uncovers functional variation in humans

    Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen

  • Scaling accurate genetic variant discovery to tens of thousands of samples

    Poplin R;Ruano-Rubio;DePristo Ma;Fennell Tj

  • Correction: Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

    Jialiang Yang;Tao Huang;Francesca Petralia;Quan Long

  • High-throughput discovery of novel developmental phenotypes

    Mary E. Dickinson;Ann M. Flenniken;Xiao Ji;Lydia Teboul

  • Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.

    Alvaro N. Barbeira;Scott P. Dickinson;Rodrigo Bonazzola;Jiamao Zheng

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

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

    Konrad J. Karczewski;Ben Weisburd;Brett Thomas;Brett Thomas;Matthew Solomonson;Matthew Solomonson

  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  • Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

    A. L. Williams Amy;A. L. Williams Amy;S. B R Jacobs Suzanne;Hortensia Moreno-Macías;Alicia Huerta-Chagoya

  • Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

    Elaine T. Lim;Peter Würtz;Peter Würtz;Peter Würtz;Aki S. Havulinna;Priit Palta;Priit Palta

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Jie Huang;Bryan Howie;Shane McCarthy;Yasin Memari

Frequent Co-Authors

Daniel G. MacArthur
Daniel G. MacArthur Garvan Institute of Medical Research
Kathryn N. North
Kathryn N. North University of Melbourne
Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Konrad J. Karczewski
Konrad J. Karczewski Harvard University
Volker Straub
Volker Straub Newcastle University
Benjamin M. Neale
Benjamin M. Neale Harvard University
Francesco Muntoni
Francesco Muntoni University College London
David Altshuler
David Altshuler Harvard University

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