Collaborator: King’s College London

• Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

• Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

• Mouse screen reveals multiple new genes underlying mouse and human hearing loss

  Abstract Adult-onset hearing loss is very common, but we know little about the underlying molecular pathogenesis impeding the development of therapies. We took a genetic approach to identify new molecules involved in hearing loss by screening a large cohort of newly generated mouse mutants using a sensitive electrophysiological test, the auditory brainstem response (ABR). We…