Associated Papers
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
Kim BJ et al.
Journal of Medical Genetics, 2022
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Bai X et al.
Biomed Research International, 2020
Corrigendum to "Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families".
Bai X et al.
Biomed Research International, 2020
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K et al.
Genes, 2019
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
Shen N et al.
Bmc Medical Genetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB et al.
Auris, Nasus, Larynx, 2016
Mutations in LOXHD1 gene cause various types and severities of hearing loss.
Mori K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.
Vozzi D et al.
Gene, 2014
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