Associated Papers
Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.
Yuan F et al.
The Journal of International Advanced Otology, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 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
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Wu SW et al.
Italian Journal of Pediatrics, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Vona B et al.
Genes, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa YI et al.
Plos One, 2019
[Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness].
Ren S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
Zhang QJ et al.
Clinical Genetics, 2016
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N et al.
Journal of Human Genetics, 2016
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
Сhurbanov AY et al.
Plos One, 2016
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM et al.
Bmc Medical Genetics, 2014
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa Y et al.
Bmc Medical Genetics, 2013
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
Wang J et al.
Plos One, 2011
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
Wang DY et al.
Bmc Medical Genetics, 2010
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy].
Liu Q et al.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2010