Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Genetic analysis of patients with low-frequency non-syndromic hearing loss.
Yu S et al.
Molecular Genetics and Genomics : Mgg, 2024
A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss.
He M et al.
Bmc Medical Genomics, 2024
Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss.
Li S et al.
Medicine, 2024
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
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_6
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y et al.
Plos One, 2013
Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.
Castellanos-Acevedo MC et al.
Brazilian Journal of Otorhinolaryngology, 0
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