Associated Papers
Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Xia XX et al.
Stem Cell Research, 2026
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Huang YS et al.
Human Genomics, 2026
A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.
Ruan T et al.
Nucleic Acids Research, 2026
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Aqueous Humor Exosomal Membrane Proteins: Decoding Pathogenic Molecular Signatures in Retinitis Pigmentosa.
Zhu Q et al.
Translational Vision Science & Technology, 2025
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Ethnic disparities in inherited retinal degenerations.
Stephenson KAJ et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.
Li W et al.
Investigative Ophthalmology & Visual Science, 2025
PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.
Hu SW et al.
Nature Communications, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.
Ying D et al.
Human Genetics, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
Clinical Characteristics and Visual Prognostic Biomarkers in Pericentral Retinitis Pigmentosa: A Study in a South Korean Cohort.
Bae SH et al.
Korean Journal of Ophthalmology : Kjo, 2025
Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
Yeo EYH et al.
Translational Vision Science & Technology, 2025
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa.
Ogorodova N et al.
International Journal of Molecular Sciences, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].
Hao N et al.
Zhonghua Fu Chan Ke Za Zhi, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Ocular genetics in the Japanese population.
Hotta Y et al.
Japanese Journal of Ophthalmology, 2024
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K et al.
Journal of Medical Genetics, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
Lin YW et al.
Orphanet Journal of Rare Diseases, 2024
Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
Basdemirci M et al.
Molecular Syndromology, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024