Associated Papers
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis.
Yi Z et al.
Scientific Reports, 2017
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
Kim BJ et al.
Plos One, 2016
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Mizutari K et al.
Orphanet Journal of Rare Diseases, 2015
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM et al.
Bmc Medical Genetics, 2014
Genetic variants of CDH23 associated with noise-induced hearing loss.
Kowalski TJ et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A et al.
Human Mutation, 2008
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
Wagatsuma M et al.
Clinical Genetics, 2007
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM et al.
American Journal of Human Genetics, 2002
Single nucleotide polymorphisms in the cadherin 23 (CDH23) gene in Polish workers exposed to industrial noise.
Sliwinska-Kowalska M et al.
American Journal of Human Biology : the Official Journal of the Human Biology Council, 0
Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness.
Sabiha B et al.
Pakistan Journal of Medical Sciences, 0