Monkol Lek, Ph.D
Affiliations: | Genetics | Yale University, New Haven, CT |
Area:
Genetics; Genetics, Medical; Neuromuscular Diseases; GenomicsWebsite:
http://www.leklab.org/Google:
"Monkol Lek"Parents
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Publications
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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 |
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 |
Laricchia KM, Lake NJ, Watts NA, et al. (2022) Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research |
Liu YD, Huang SS, Li M, et al. (2022) A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11. Clinical Genetics |
Beauchamp EM, Leventhal M, Bernard E, et al. (2021) is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing. Blood Cancer Discovery. 2: 500-517 |
Gudmundsson S, Karczewski KJ, Francioli LC, et al. (2021) Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. Nature |
Waddell LB, Bryen SJ, Cummings BB, et al. (2021) WGS and RNA Studies Diagnose Noncoding Variants in Males With High Creatine Kinase. Neurology. Genetics. 7: e554 |