Associated Papers
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
Robijn SMM et al.
Biomolecules, 2022
35204720 (PubMed )
Supplement: biomolecules-12-00220-s001.zip › biomolecules-1539304-supplementary › biomolecules-1539304-supplementary_.pdf
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D et al.
Hearing Research, 2021
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
Danial-Farran N et al.
European Journal of Human Genetics : Ejhg, 2021
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT et al.
Human Genetics, 2020
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
JanssensdeVarebeke SPF et al.
European Journal of Human Genetics : Ejhg, 2018
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