Area of research
Sensory Systems · Genetics
Research interest
Research interests include Genetics, Biology, Missense mutation, Hearing loss, Interpretation (philosophy), and Phenotype.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
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
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome