Publications - extended | Kbalab

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Publications

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

Bats experience age-related hearing loss (presbycusis)

The long and short: Non-coding RNAs in the mammalian inner ear

A Nesprin-4/kinesin-1 cargo model for nuclear positioning in cochlear outer hair cells

The genomics of auditory function and disease

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder

Identification and characterization of key long non-coding RNAs in the mouse cochlea

Auditory performance in recovered SARS-COV-2 patients

Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A)

Expression pattern of cochlear microRNAs in the mammalian auditory hindbrain

United by hope, divided by access: country mapping of COVID-19 information accessibility and its consequences on pandemic eradication

CRISPR/Cas9 Mice Genome Editing to Study New Human Deafness Genes

Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain

A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Molecular Features of SLC26A4 Common Variant p. L117F

Emerging complexities of the mouse as a model for human hearing loss

The noncoding genome and hearing loss

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Repair of Noise-Induced Damage to Stereocilia F-actin Cores is Facilitated by XIRP2

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India

Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss

Mechanical forces drive ordered patterning of hair cells in the mammalian inner ear

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

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