Associated Papers
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.
Zhang X et al.
Experimental Dermatology, 2022
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA et al.
Human Genetics, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 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
Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.
Li H et al.
Experimental and Therapeutic Medicine, 2019
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J et al.
Annals of Human Genetics, 2017
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Li TC et al.
Molecular Medicine Reports, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
da Silva-Costa SM et al.
Genetic Testing and Molecular Biomarkers, 2011
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
Shearer AE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010