Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.

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Publication Details

Journal
Clinical Genetics
Published
2026-08-28
DOI
https://doi.org/10.1111/cge.70240
Primary Topic
Hearing, Cochlea, Tinnitus, Genetics
Type
article
Field-Weighted Citation Impact
0.00
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article

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

Margaux Serey‐Gaut, Ralyath Balogoun, Sandrine Marlin, Laurence Jonard
Clinical Genetics
Hearing, Cochlea, Tinnitus, Genetics
article

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

Margaux Serey‐Gaut, Ralyath Balogoun, Sandrine Marlin, Laurence Jonard
article en

Abstract

As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.

Clinical Genetics
Hôpital Necker-Enfants Malades (FR), Inserm (FR), Université Paris Cité (FR), Institut des Maladies Génétiques Imagine (FR)
Openalex Percentile: Top 12%
Hearing, Cochlea, Tinnitus, Genetics
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