Michael R. Bowl

The mouse Cdh23ahl allele drives early cochlear dysfunction and phenotypic heterogeneity before progressive hearing loss

This study shows the Cdh23ahl allele causes early cochlear dysfunction and phenotypic variability in mice before progressive hearing loss, with altered mechanoelectrical transduction and transcriptional changes.

CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern

The paper investigates the distinct roles of CIB2 and whirlin in cochlear stereocilia development and shows that CIB2 has independent functions from whirlin in maintaining the staircase pattern.

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort

This study analyzes genetic causes of syndromic and non-syndromic hearing loss in 5,488 individuals from the 100,000 Genomes Project, identifying 273 genes and a 27.5% diagnostic yield.

KLHDC7B, a novel gene associated with age-related hearing loss in humans, is required for the maintenance of hearing in mice.

This paper identifies KLHDC7B as a gene associated with age-related hearing loss in humans and validates its role in hearing maintenance using two mouse models.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

This study investigates the role of Neuroplastin in mammalian hearing, showing that only the Np55 isoform is essential for cochlear hair cell function and that its absence interacts genetically with Cdh23 mutations to cause hearing loss.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

Aberrant synaptic release underlies sleep/wake transition deficits in a mouse Vamp2 mutant

This study identifies a Vamp2 mutation in mice that causes sleep-wake transition deficits by reducing synaptic release probability.