Associated Papers
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O et al.
International Journal of Molecular Sciences, 2022
36555390 (PubMed )
Supplement: ijms-23-15748-s001.zip › ijms-2036179_suppl._tableS1.pdf
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
Yang JY et al.
Bmc Medical Genomics, 2022
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
34440452 (PubMed )
Supplement: genes-12-01277-s001.zip › Table_S4_Molecular_results_RV_final.pdf
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 2019
31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.pdf
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM2_ESM.xlsx › Feuil1
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Schrauwen I et al.
American Journal of Medical Genetics. Part A, 2013
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