Associated Papers
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
Han JH et al.
Journal of Clinical Medicine, 2024
38610765 (PubMed )
Supplement: jcm-13-02001-s001.zip › jcm-2913174-supplementary.xlsx › Supplement_Table_S2
A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation.
Peng Y et al.
Life (basel, Switzerland), 2023
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Rim JH et al.
Human Genetics, 2022
34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS et al.
Human Genetics, 2022
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
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
Basu A et al.
Head and Neck Pathology, 2020
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM et al.
Human Mutation, 2018
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
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
Wang Q et al.
Plos One, 2017
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
Jung J et al.
Human Mutation, 2015
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