Author details

Full Name

Monkol Lek

Affiliation

ORCID

Career Start Year

2009

Papers

127

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37005889	Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.		2023
37847555	Profilin1 is required to prevent mitotic catastrophe in murine and human glomerular diseases.		2023
37754285	Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.		2023
37973788	Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism.		2023
37873263	Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).		2023
37777527	Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.	Nat Commun	2023
36778471	Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism.		2023
37205491	The landscape of tolerated genetic variation in humans and primates.	bioRxiv	2023
37458043	Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.		2023
37133451	Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.	Hum Mol Genet	2023
36757831	The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.	Brain	2023
37262156	The landscape of tolerated genetic variation in humans and primates.	Science	2023
37386251	Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.	Nat Genet	2023
35222531	Case Report: Two Families With <i>HPDL</i> Related Neurodegeneration.	Front Genet	2022
35908999	Neuromuscular disorders: finding the missing genetic diagnoses.	Trends in Genetics	2022
35771631	Genetic variance in human disease - modelling the future of genomic medicine.	DMM Disease Models and Mechanisms	2022
35762399	Decoding the genetics of rare disease: an interview with Monkol Lek.	DMM Disease Models and Mechanisms	2022
35561159	MitoVisualize: a resource for analysis of variants in human mitochondrial RNAs and DNA.		2022
35549429	Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.	Science	2022
34988992	A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.	Clinical Genetics	2022
35074858	Mitochondrial DNA variation across 56,434 individuals in gnomAD.	Genome Res	2022
34935906	Envisioning the next human genome reference.	Dis Model Mech	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33446253	Exome sequencing in paediatric patients with movement disorders.	Orphanet Journal of Rare Diseases	2021
33446040	Nuclease-Deficient Clustered Regularly Interspaced Short Palindromic Repeat-Based Approaches for and Gene Activation.	Human Gene Therapy	2021
33977140	WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.	Neurol Genet	2021
34305806	Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders.	Frontiers in Neurology	2021
33092966	Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy.	Trends in Molecular Medicine	2021
34521872	Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.	Sci Rep	2021
34568833	<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.	Blood Cancer Discov	2021
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
32891193	Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.	Am J Hum Genet	2020
32213627	Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.	Sci Transl Med	2020
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
32963807	A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.	npj Genomic Medicine	2020
33174531	Cellular and animal models for facioscapulohumeral muscular dystrophy.	DMM Disease Models and Mechanisms	2020
31145742	Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.	PLoS Genet	2019
30072743	Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.	Genet Med	2019
29921608	Extending the clinical and mutational spectrum of <i>TRIM32</i>-related myopathies in a non-Hutterite population.	J Neurol Neurosurg Psychiatry	2019
31230195	COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.	Hum Genet	2019
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
30895940	A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.	JCI Insight	2019
30894395	Resolving the full spectrum of human genome variation using Linked-Reads.	Genome Res	2019
31105274	Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.	Genetics in Medicine	2019
30993004	Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.	npj Genomic Medicine	2019
29727687	Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.	Am J Hum Genet	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
30060766	Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.	Skelet Muscle	2018
30345904	Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.	Physiol Genomics	2018
29959197	GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.	J Am Soc Nephrol	2018