Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss-Reference-Cited by-同舟云学术

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Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Published:2014-09 Issue:9 Volume:18 Page:658-661
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Bademci Guney¹,Diaz-Horta Oscar¹,Guo Shengru¹,Duman Duygu²,Van Booven Derek¹,Foster II Joseph¹,Cengiz Filiz Basak²,Blanton Susan¹³,Tekin Mustafa¹³

Affiliation:

1. John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida.

2. Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey.

3. Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2014.0121

Reference16 articles.

1. Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

2. Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey

3. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

4. Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

5. A Cost-effectiveness Analysis of Newborn Hearing Screening Strategies

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1. Implementing next-generation sequencing for diagnosis and management of hereditary hearing impairment: a comprehensive review;Expert Review of Molecular Diagnostics;2024-08-28

2. The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar;Scientific Reports;2024-02-20

3. Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian families;2024-02-20

4. Variant analysis of 92 Chinese Han families with hearing loss;BMC Medical Genomics;2022-01-21

5. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients;Scientific Reports;2022-01-12

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