Monkol Lek

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

60h-index42.2kcitations224works5.92yr avg
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Research Topics

Muscle Physiology and Disorders(64), Genomics and Rare Diseases(46), Cardiomyopathy and Myosin Studies(26), Mitochondrial Function and Pathology(24), RNA Research and Splicing(23)

Publications216 total

Reversible compromise of physiological resilience by accumulation of heteroplasmic mtDNA mutations
Science·2025· 3 citedOpen Access
Precision multiplexed base editing in human cells using Cas12a-derived base editors
Nature Communications·2025· 2 citedOpen Access
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Genome Medicine·2025· 7 citedOpen Access
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Human Genetics and Genomics Advances·2025· 1 citedOpen Access
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T
Brain·2025· 1 citedOpen Access
Hypercholesterolemia-induced LXR signaling in smooth muscle cells contributes to vascular lesion remodeling and visceral function
Proceedings of the National Academy of Sciences·2025· 5 citedOpen Access
Highlighting Genetic Differences between Barlow’s Disease and Fibroelastic Deficiency via Genome-Wide Association Study Meta-Analyses
The Thoracic and Cardiovascular Surgeon·2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
2024· 1 citedOpen Access
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms
Nature Communications·2024· 7 citedOpen Access
Mitochondrial Heteroplasmy Is a Novel Predictor of Chronic Lymphocytic Leukemia Risk
Blood·2024
Quantifying constraint in the human mitochondrial genome
Nature·2024· 45 citedOpen Access
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Nature Communications·2024· 7 citedOpen Access
Saturation mutagenesis-reinforced functional assays for disease-related genes
Cell·2024· 14 citedOpen Access
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Annals of Clinical and Translational Neurology·2024· 3 citedOpen Access
alpha-Actinin-3 deficiency protects from the effects of acute cold exposure through altered skeletal muscle Ca2+ and OXPHOS signaling.
2024Open Access
Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases
2024· 5 citedOpen Access
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Genetics in Medicine·2024· 13 citedOpen Access
High-throughput assays to assess variant effects on disease
Disease Models & Mechanisms·2024· 6 citedOpen Access
Translating multiscale research in rare disease
Disease Models & Mechanisms·2024· 1 citedOpen Access
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
2024Open Access
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Frequent Co-authors

Daniel G. MacArthur(38), Kathryn N. North(13), Nigel F. Clarke(10), Taru Tukiainen(9), Leigh B. Waddell(9), Beryl B. Cummings(8), Nigel G. Laing(8), Mark I. McCarthy(7), Mark J. Daly(7), Gina O’Grady(7), Ayellet V. Segrè(6), Tuuli Lappalainen(6), Pedro G. Ferreira(6), Michael Sammeth(6), Roderic Guigó(6), Emmanouil T. Dermitzakis(6), Manuel A. Rivas(6), Kristin Ardlie(6), Konrad J. Karczewski(6), Roula Ghaoui(6)