Associated Papers
Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.
Mohseni M et al.
Molecular Genetics & Genomic Medicine, 2025
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S7
Multiple plasma membrane reporters discern LHFPL5 region that blocks trafficking to the plasma membrane.
Soler DC et al.
Scientific Reports, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J et al.
Clinical Genetics, 2019
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2018
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.
Marková S et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI et al.
Journal of Medical Genetics, 2006
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E et al.
Human Mutation, 2006
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