Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
Yan D et al.
Audiology & Neuro-otology, 2025
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Antunes LN et al.
Frontiers in Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.
Johansson M et al.
Journal of Clinical Medicine, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.
Ramzan M et al.
Gene, 2019
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Nakanishi H et al.
Auris, Nasus, Larynx, 2014
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
De Keulenaer S et al.
Bmc Medical Genomics, 2012
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
Sirmaci A et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.
Elander J et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0