Associated Papers
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.
Niepokój K et al.
Journal of Applied Genetics, 2025
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Tollefson MR et al.
Human Genetics, 2023
Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome.
Tollefson MR et al.
Research Square, 2023
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Souissi A et al.
Genetic Testing and Molecular Biomarkers, 2021
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
Yu J et al.
Hereditas, 2020
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.
Karstensen HG et al.
European Journal of Medical Genetics, 2020
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.
Demain LAM et al.
Journal of Human Genetics, 2020
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