Biblio
Variant to gene mapping for carpal tunnel syndrome risk loci implicates skeletal muscle regulatory elements. EBioMedicine. 2024;101:105038.
. Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes. Cell Stem Cell. 2021.
Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program. Stem Cell Res. 2020;46:101803.
Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A. Stem Cell Res. 2023;69:103083.
. The expression profile of Oct4 and Sox2 in the carcinogenesis of oral mucosa. Int J Clin Exp Pathol. 2013;7(1):28-37.
. Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid Levels. Circ Genom Precis Med. 2023:e003249.