Associated Papers
Combined hearing screening and genetic screening of deafness among Sanya newborns in Hainan Province.
Chen L et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Integrating newborn genetic screening with traditional screening to improve newborn screening.
Men S et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2025
Comparison of clinical performance of MeltPro hearing loss assay and targeted next generation sequencing assay for genetic screening of hearing loss.
Wang X et al.
Scientific Reports, 2025
Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.
Liu Y et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.
Niu L et al.
Archives of Medical Science : Ams, 2024
Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China.
Tian Y et al.
Heliyon, 2023
Gene Screening for Non-Syndromic Deafness in Hainanese Patients.
Fu Y et al.
The Journal of International Advanced Otology, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.
Gao Y et al.
Frontiers in Genetics, 2022
Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Luo H et al.
Frontiers in Pediatrics, 2022
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis.
Zhu K et al.
Frontiers in Pediatrics, 2022
NeoSeq: a new method of genomic sequencing for newborn screening.
Wang H et al.
Orphanet Journal of Rare Diseases, 2021
Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.
Wang Y et al.
The Journal of International Advanced Otology, 2021
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
Bailey RA et al.
International Journal of Molecular Sciences, 2021
A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.
Guo Y et al.
Translational Pediatrics, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China.
Tang X et al.
Frontiers in Pediatrics, 2021
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
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
[Hearing assessment and follow-up study of aeonatal deafness gene screening homozygous mutation infants].
Liu QM et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2019
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB et al.
International Journal of Pediatric Otorhinolaryngology, 2019
The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials.
Chen S et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Zhao P et al.
Medicine, 2018
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.
Huang S et al.
International Journal of Pediatric Otorhinolaryngology, 2017
[An analysis of the mutation in GJB2，GJB3，SLC26A4 and mtDNA12SrRNA in new born].
Chai F et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2017
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
He X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.
Wang X et al.
Scientific Reports, 2017
A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.
Li S et al.
Plos One, 2017
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
Chen S et al.
Genetic Testing and Molecular Biomarkers, 2016
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.
Dallol A et al.
Bmc Medical Genetics, 2016
Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
Peng Q et al.
Genetic Testing and Molecular Biomarkers, 2016
Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.
Li Y et al.
Molecular Medicine Reports, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.
Zhu J et al.
Intractable & Rare Diseases Research, 2015
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
Sugiura K et al.
The British Journal of Dermatology, 2015
[Analysis of common mutations of deafness-related genes in 2725 newborns].
Yu H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015