Monkol Lek
Broad Institute(US)Yale University(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, Mitochondrial Function and Pathology, RNA Research and Splicing
Most-Cited Works
- → The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans(2015)5,617 cited
- → Transcriptome and genome sequencing uncovers functional variation in humans(2013)2,164 cited
- → Scaling accurate genetic variant discovery to tens of thousands of samples(2017)2,070 cited
- → Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics(2018)1,189 cited
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Correction: Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases(2016)722 cited
- → Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico(2013)511 cited
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function(2022)409 cited
- → Effect of predicted protein-truncating genetic variants on the human transcriptome(2015)339 cited