Héla Azaiez

The prevalence of protein misfolding as a mechanism for hereditary deafness

The paper evaluates computational frameworks to prioritize pathogenic variants in deafness-associated genes, identifying 28,866 VUSs with high pathogenicity probability and improving diagnoses for 12 patients.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

gEAR: gene Expression Analysis Resource portal for community-driven, multi-omic data exploration

gEAR provides a community-driven portal for multi-omic data visualization, analysis, and sharing across species and data types.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

The paper identifies four novel pathogenic variants in COCH causing autosomal recessive nonsyndromic hearing loss and shows non-truncating variants affect RNA-splicing.

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.