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Monkol Lek, Ph.D

Affiliations: 
Genetics Yale University, New Haven, CT 
Area:
Genetics; Genetics, Medical; Neuromuscular Diseases; Genomics
Website:
http://www.leklab.org/
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"Monkol Lek"
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Parents

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Kathryn N. North grad student Murdoch Childrens Research Institute
Daniel G. MacArthur post-doc Broad Institute of MIT and Harvard

Children

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Kaiyue Ma grad student 2018-2023 Yale

Collaborators

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BETA: Related publications

Publications

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Foley AR, Bolduc V, Guirguis F, et al. (2024) The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. Medrxiv : the Preprint Server For Health Sciences
Jurgens JA, Barry BJ, Chan WM, et al. (2024) Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Medrxiv : the Preprint Server For Health Sciences
Marchant RG, Bryen SJ, Bahlo M, et al. (2024) Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of Clinical and Translational Neurology
Lee AS, Ayers LJ, Kosicki M, et al. (2023) A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences
Ma K, Ng KK, Huang S, et al. (2023) Deep Mutational Scanning in Rare Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF). Biorxiv : the Preprint Server For Biology
Lek A, Wong B, Keeler A, et al. (2023) Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy. The New England Journal of Medicine. 389: 1203-1210
Gao H, Hamp T, Ede J, et al. (2023) The landscape of tolerated genetic variation in humans and primates. Biorxiv : the Preprint Server For Biology
Amarasekera SSC, Hock DH, Lake NJ, et al. (2023) Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Human Molecular Genetics
Saffari A, Lau T, Tajsharghi H, et al. (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a Journal of Neurology
Baxter SM, Posey JE, Lake NJ, et al. (2022) Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine : Official Journal of the American College of Medical Genetics
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