Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes-Reference-Cited by-同舟云学术

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Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

Published:2015-04 Issue:4 Volume:19 Page:209-217
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Nishio Shin-Ya¹²,Hayashi Yoshiharu³,Watanabe Manabu³,Usami Shin-Ichi¹²

Affiliation:

1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

2. Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.

3. Life Technologies Japan Ltd. (A Part of Thermo Fisher Scientific), Tokyo, Japan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2014.0252

Reference26 articles.

1. Application of Deafness Diagnostic Screening Panel Based on Deafness Mutation/Gene Database Using Invader Assay

2. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

3. wANNOVAR: annotating genetic variants for personal genomes via the web

4. WFS1 mutations in Spanish patients with diabetes mellitus and deafness

5. Genotype-phenotype correlation in MYH9-related thrombocytopenia

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2. The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B;Scientific Reports;2024-04-09

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

4. Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss;Human Genetics;2022-01-12

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