Matías Morin

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

This study characterizes hearing loss in mice with human MIR96 mutations and identifies a therapeutic candidate that delays hearing loss progression in heterozygous mice.

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.

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.