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List of works by Hela Azaiez

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

scientific article published in 2021

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

scientific article published in 2021

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

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

scientific article published on 31 May 2020

De novo variants are a common cause of genetic hearing loss

scientific article published in 2022

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

scientific article published on 28 July 2016

Exonic mutations and exon skipping: Lessons learned from DFNA5.

scientific article published on 19 December 2017

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

scientific journal article

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

scientific article

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

scientific article

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

scientific article published on 19 June 2020

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

scientific article published on 27 April 2018

Variants in CIB2 cause DFNB48 and not USH1J.

scientific article

Variants of <scp><i>LRP2</i></scp>, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

scientific article published in 2023

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