Monkol Lek
0000-0003-1227-6293
Publication & Citation Trends
Publications
214 total
Mitochondrial heteroplasmy is a risk factor for the development of chronic lymphocytic leukemia
Cited by 0
Semantic Scholar
O.10A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy
Cited by 0
Semantic Scholar
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]. OA
Cited by 0
Semantic Scholar
Genetic effects on gene expression across human tissues OA
Cited by 3,680
Semantic Scholar
P.473 - Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?
Cited by 1
Semantic Scholar
The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin
Cited by 5
Semantic Scholar
A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides
Cited by 0
Semantic Scholar
Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness
Cited by 0
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(64)
Genomics and Rare Diseases
(45)
Cardiomyopathy and Myosin Studies
(26)
Mitochondrial Function and Pathology
(23)
RNA Research and Splicing
(23)
Affiliations
BGI Group (China)
Broad Institute
Boston Children's Hospital
The University of Sydney
National Institutes of Health