Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family-Reference-Cited by-同舟云学术

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Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Published:2013 Issue:1 Volume:14 Page:191
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Park Gibeom,Gim Jungsoo,Kim Arheum,Han Kyu-Hee,Kim Hyo-Sang,Oh Seung-Ha,Park Taesung,Park Woong-Yang,Choi ByungYoon

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Reference33 articles.

1. Exome sequencing as a tool for Mendelian disease gene discovery

2. Do Liposomal Apoptotic Enhancers Increase Tumor Coagulation and End-Point Survival in Percutaneous Radiofrequency Ablation of Tumors in a Rat Tumor Model?

3. Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

4. Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

5. Disease gene identification strategies for exome sequencing

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1. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

3. De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome;International Journal of Molecular Sciences;2022-01-08

4. DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature;Audiology Research;2021-10-18

5. Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores;Human Genetics;2021-07-07

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