Associated Papers
Gene supplementation with precise transgene expression rescues hearing loss in a mouse model with an Mpzl2 East Asian founder variant.
Jang SH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Unraveling the genetic basis of post-infancy diagnosed sensorineural hearing loss using whole exome sequencing.
Li W et al.
Hearing Research, 2025
Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study.
Li SG et al.
The Journal of International Medical Research, 2025
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.
Damrongchietanon T et al.
Scientific Reports, 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
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.
Jiang L et al.
American Journal of Human Genetics, 2024
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E et al.
American Journal of Medical Genetics. Part A, 2024
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
Han JH et al.
Journal of Clinical Medicine, 2024
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L et al.
Bmc Medical Genomics, 2024
Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
Yun Y et al.
International Journal of Molecular Sciences, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
Li W et al.
International Journal of Pediatric Otorhinolaryngology, 2023