Area of research
Genetics · Sensory Systems
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Genomics and Chromatin Dynamics, and RNA Research and Splicing.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Degradation of Gadd45 mRNA by nonsense-mediated decay is essential for viability
<i>In Vivo</i>Determination of Direct Targets of the Nonsense-Mediated Decay Pathway in<i>Drosophila</i>