Area of research
Sensory Systems · Genetics
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, RNA regulation and disease, and Hearing Loss and Rehabilitation.
Biallelic <scp><i>KITLG</i></scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Novel variant p.E269K confirms causative role of <i>PLS1</i> mutations in autosomal dominant hearing loss
<i>FOXF2</i>is required for cochlear development in humans and mice
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability