Associated Papers
Analysis of a Novel Mouse Mutation of the Deafness Gene Pejvakin.
Marcos-Almaraz MT et al.
Genesis (new York, N.y. : 2000), 2026
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40089864 (PubMed )
Supplement: ADVS-12-2408891-s002.zip › TableS5_r2.xlsx › Sheet1
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel
Advances in cochlear gene therapies.
Klimara MJ et al.
Current Opinion in Pediatrics, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t
Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice.
Lu YC et al.
Jci Insight, 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation.
Cheng YF et al.
Biochemical and Biophysical Research Communications, 2020
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Li Y et al.
Molecular Medicine Reports, 2020
32705272 (PubMed )
Supplement: Supplementary_Data1.xlsx › original
Auditory synaptopathy, auditory neuropathy, and cochlear implantation.
Shearer AE et al.
Laryngoscope Investigative Otolaryngology, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
30872718 (PubMed )
Supplement: 41598_2019_41068_MOESM1_ESM.pdf
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
Wu CC et al.
Medicine, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Wang J et al.
Plos One, 2011
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
Hashemzadeh Chaleshtori M et al.
Clinical Genetics, 2007
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW et al.
Human Mutation, 2007
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