Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Nuclear Structure and Function, Genomic variations and chromosomal abnormalities, and Sexual Differentiation and Disorders.
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
Novel pathogenic variants underlie SLC26A4 -related hearing loss in a multiethnic cohort
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
Whole-exome sequencing and its impact in hereditary hearing loss