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2020
Development and Patterning of the Cochlea: From Convergent Extension to Planar Polarity
Cold Spring Harbor Perspectives in Medicine
2020
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Nature Communications
2020
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants
Human Mutation
2019
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population
Genes
2019
Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct
The Journal of Molecular Diagnostics
2019
Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss
JAMA Otolaryngology–Head & Neck Surgery
2019
Molecular basis of hearing loss associated with enlarged vestibular aqueduct
Journal of Bio-X Research
2019
Analysis of mutations in the <i>FOXI1</i> and <i>KCNJ10</i> genes in infants with a single-allele <i>SLC26A4</i> mutation
BioScience Trends
2019
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
The Laryngoscope
2018
Functional Testing of SLC26A4 Variants—Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria
International Journal of Molecular Sciences
2018
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
BMC Medical Genetics
2017
A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts
Molecular Medicine Reports
2017
eLS
2017
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
2017
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family
Orphanet Journal of Rare Diseases
2016
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants
Molecular Medicine
2016
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct
The Laryngoscope
2015
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct
International Journal of Pediatric Otorhinolaryngology
2015
A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations
International Journal of Pediatric Otorhinolaryngology