Associated Papers
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
de Guimaraes TAC et al.
Investigative Ophthalmology & Visual Science, 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_S9
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.
Tesolin P et al.
Audiology Research, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.
Al-Kindi MN et al.
Journal, Genetic Engineering & Biotechnology, 2020
Identification of novel cadherin 23 variants in a Chinese family with hearing loss.
Xu T et al.
Molecular Medicine Reports, 2019
The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes.
Chai Y et al.
Clinical Genetics, 2015
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
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