Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.
Kernohan KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D 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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.
Wener ER et al.
The Laryngoscope, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Danilchenko VY et al.
Genes, 2023
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
Bałdyga N et al.
Genes, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Klarov LA et al.
International Journal of Molecular Sciences, 2022
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Zhang CR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Li M et al.
Nature Communications, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya M et al.
American Journal of Medical Genetics. Part A, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.
Lin YH et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
Nonose RW et al.
Bmc Medical Genetics, 2018
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.
Likar T et al.
Plos One, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P et al.
Journal of Medical Genetics, 2017
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T et al.
Human Molecular Genetics, 2017
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
Bassot C et al.
Biochimie, 2017
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
Mironovich OL et al.
Genetika, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
Muskett JA et al.
The Laryngoscope, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016