Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Exome analyses unravel the genetic architecture of Mendelian dominant nonsyndromic orofacial clefts.
Zuo Y et al.
Genomics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Ramzan M et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
Elsayed O et al.
Molecular Genetics & Genomic Medicine, 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
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
Liang P et al.
International Journal of Pediatric Otorhinolaryngology, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J et al.
Scientific Reports, 2021
Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome.
Qiao F et al.
Frontiers in Genetics, 2021
Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.
Bazazzadegan N et al.
Iranian Journal of Public Health, 2019
Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.
Liu Y et al.
Diagnostic Pathology, 2019
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B et al.
Molecular Syndromology, 2017