Associated Papers
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_S5
Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report.
Tsuchida Y et al.
Medicine, 2022
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
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I et al.
Molecular Genetics and Genomics : Mgg, 2015
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
Baek JI et al.
Orphanet Journal of Rare Diseases, 2012
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