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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

artículo científico publicado en 2020

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

artículo científico publicado en 2021

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

artículo científico publicado en 2014

DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

artículo científico publicado en 2020

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids

scientific article published on 13 June 2019

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

artículo científico publicado en 2016

Exonic mutations and exon skipping: Lessons learned from DFNA5.

artículo científico publicado en 2017

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

Mutations in LOXHD1 gene cause various types and severities of hearing loss

artículo científico publicado en 2015

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

artículo científico publicado en 2015

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

artículo científico publicado en 2018

TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation

artículo científico publicado en 2022

Variants in CIB2 cause DFNB48 and not USH1J.

artículo científico publicado en 2017

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