Associated Papers
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.
Twumasi Aboagye E et al.
International Journal of Molecular Sciences, 2025
40244166 (PubMed )
Supplement: ijms-26-03337-s001.zip › ijms-3532175-supplementary.pdf
Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.
Shi X et al.
Molecular Genetics & Genomic Medicine, 2024
Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.
Huang C 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
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss.
Sadeghi Z et al.
International Medical Case Reports Journal, 2020
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Taghipour-Sheshdeh A et al.
Genomics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D et al.
Human Genetics, 2016
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Mašindová I et al.
Plos One, 2015
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
Babanejad M et al.
American Journal of Medical Genetics. Part A, 2012
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