Associated Papers
Characterization of STRC Gene Conversions by Nanopore Sequencing.
Rigon C et al.
Clinical Chemistry, 2026
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Conlin LK et al.
Human Mutation, 2022
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_4_
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Kim BJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Vona B et al.
Clinical Genetics, 2015
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