Area of research
Sensory Systems · Genetics
Research interest
Research interests include Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Vestibular and auditory disorders, and Ear Surgery and Otitis Media.
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia
A clinical and genotype-phenotype analysis of MACF1 variants
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci
Triple Primary Cancers: An Analysis of Genetic and Environmental Factors
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
The GENESIS database and tools: A decade of discovery in Mendelian genomics
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Deletion of first noncoding exon in <i>ANKRD11</i> leads to <scp>KBG</scp> syndrome
Biallelic <scp><i>KITLG</i></scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
Repeat expansions nested within tandem CNVs: a unique structural change in <i>GLS</i> exemplifies the diagnostic challenges of non-coding pathogenic variation
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Radixin modulates the function of outer hair cell stereocilia
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
Adams–Oliver syndrome caused by mutations of the <i>EOGT</i> gene
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Dysfunction of <i>GRAP</i> , encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
Novel variant p.E269K confirms causative role of <i>PLS1</i> mutations in autosomal dominant hearing loss
Autosomal dominant inheritance in a recently described <i>ZMIZ1‐</i>related neurodevelopmental disorder: Case report of siblings and an affected parent
Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations