Associated Papers
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Schmitt M et al.
Molecular & Cellular Proteomics : Mcp, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.
Lee SY et al.
Scientific Reports, 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
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
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
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
The plasma membrane calcium pump in health and disease.
Brini M et al.
The Febs Journal, 2013
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Giacomello M et al.
The International Journal of Biochemistry & Cell Biology, 2012
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
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Ficarella R et al.
Proceedings of the National Academy of Sciences of the United States of America, 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