Associated Papers
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
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
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
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
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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review.
Wang Z et al.
Laryngoscope Investigative Otolaryngology, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China].
Dai P et al.
Zhonghua Yi Xue Za Zhi, 2007
[The roles of connexin genes in sporadic hearing loss population].
Li QZ et al.
Zhonghua Yi Xue Za Zhi, 2007
[A study on PARKIN gene in three pedigrees with autosomal recessive early-onset Parkinson's disease].
Jin M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
[Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
Li W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002