Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort-Reference-Cited by-同舟云学术

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort

Published:2019-08-06 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Khan Amjad¹²³^ORCID,Han Shirui¹²,Wang Rongrong¹,Ansar Muhammad⁴,Ahmad Wasim⁴,Zhang Xue¹²

Affiliation:

1. McKusick‐Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, School of Basic Medicine, Peking Union Medical College Chinese Academy of Medical Sciences Beijing China

2. The Research Center for Medical Genomics China Medical University Shenyang China

3. Department of Developmental Medicine, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

4. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Pakistan

Funder

National Natural Science Foundation of China

Beijing Municipal Science and Technology Commission

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.917

Reference8 articles.

1. Audiological Features of GJB2 (Connexin 26) Deafness

2. Newborn Hearing Screening — A Silent Revolution

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Mutations of GJB2 Encoding Connexin 26 Contribute to Nonsyndromic Moderate and Severe Hearing Loss in Pakistan”. European archives of oto‐rhino‐laryngology : Official journal of the European Federation of Oto‐Rhino‐Laryngological Societies (EUFOS): Affiliated with the German Society for Oto‐Rhino‐Laryngology ‐;Salman M.;Head and Neck Surgery,2015

5. Supporting the global initiative of preventing childhood hearing loss: Act now, here′s how!

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures;Annals of Otology, Rhinology & Laryngology;2023-04-03

2. A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness;Frontiers in Synaptic Neuroscience;2023-01-06

3. Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss;Genes & Genomics;2022-12-06

4. 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;BMC Medical Genomics;2022-11-18

5. The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants;Biomedicines;2022-09-12