Associated Papers
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.
Jung J et al.
Journal of Clinical Medicine, 2024
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
Han JH et al.
Journal of Clinical Medicine, 2024
38610765 (PubMed )
Supplement: jcm-13-02001-s001.zip › jcm-2913174-supplementary.xlsx › Supplement_Table_S2
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.
Berry V et al.
Bmj Open Ophthalmology, 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
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
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