Area of research
Sensory Systems · Otorhinolaryngology
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Ear Surgery and Otitis Media, Vestibular and auditory disorders, and Genomic variations and chromosomal abnormalities.
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Dysfunction of <i>GRAP</i> , encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
<i>FOXF2</i>is required for cochlear development in humans and mice
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
Dominant deafness–onychodystrophy syndrome caused by an <i><scp>ATP</scp>6V1B2</i> mutation
Novel pathogenic variants underlie SLC26A4 -related hearing loss in a multiethnic cohort
Novel EYA1 variants causing Branchio-oto-renal syndrome
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Targeted Resequencing of Deafness Genes Reveals a Founder<i>MYO15A</i>Variant in Northeastern Brazil
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss
SLITRK6 mutations cause myopia and deafness in humans and mice
Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss