标题
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2019-03-21
DOI
10.1038/s41436-019-0487-0
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
- (2018) Alex Henrie et al. HUMAN MUTATION
- Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
- (2018) Chengming Zhou et al. FERTILITY AND STERILITY
- The progression of the ClinGen gene clinical validity classification over time
- (2018) Jennifer L. McGlaughon et al. HUMAN MUTATION
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
- (2018) Andrea M. Oza et al. HUMAN MUTATION
- A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
- (2017) Parna Chattaraj et al. JOURNAL OF MEDICAL GENETICS
- Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
- (2016) Amit Tiwari et al. Scientific Reports
- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation
- (2015) Ahmad N. Abou Tayoun et al. GENETICS IN MEDICINE
- Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus
- (2015) Ahmad N. Abou Tayoun et al. HUMAN MUTATION
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
- (2014) GENETICS IN MEDICINE
- The Prevalence ofCHD7Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
- (2014) Séverine Marcos et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Use ofSLC26A4Mutation Testing for Unilateral Enlargement of the Vestibular Aqueduct
- (2014) Parna Chattaraj et al. JAMA Otolaryngology-Head & Neck Surgery
- Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
- (2013) Flavia Amanda Costa-Barbosa et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss
- (2013) Giorgia Girotto et al. PLoS One
- The Results ofCHD7Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
- (2012) Jorieke E. H. Bergman et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
- (2012) Erik G. Puffenberger et al. PLoS One
- Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
- (2011) J. M. Schultz et al. JOURNAL OF MEDICAL GENETICS
- A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
- (2010) E Wilch et al. CLINICAL GENETICS
- Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
- (2009) Tao Yang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
- (2009) Juan Rodriguez-Paris et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now