Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. J Hum Genet (2016) 0.80

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans. PLoS One (2016) 0.75

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans. PLoS One (2016) 0.75

Functional Characterization of a Novel Loss-of-Function Mutation of PRPS1 related to Early-Onset Progressive Nonsyndromic Hearing Loss in Koreans (DFNX1): Potential Implications on Future Therapeutic Intervention. J Gene Med (2016) 0.75

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia. Mol Med (2017) 0.75

The application of molecular genetic approaches to the study of human evolution. Nat Genet (2003) 7.44

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature (2007) 4.87

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med (1998) 4.34

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet (2001) 3.15

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet (2005) 1.81

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet (2003) 1.61

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43

Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. PLoS One (2011) 1.38

A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin Genet (2010) 1.37

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat (2008) 1.33

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss. PLoS One (2013) 1.24

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat (2008) 1.24

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One (2012) 1.20

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet (2007) 1.17

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet (1996) 1.16

Relation between choice of partner and high frequency of connexin-26 deafness. Lancet (2000) 1.11

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One (2012) 1.11

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. J Med Genet (2007) 1.10

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet (2011) 1.07

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol (2007) 1.04

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. Orphanet J Rare Dis (2014) 1.03

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS One (2013) 0.96

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J Assoc Res Otolaryngol (2011) 0.96

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). Otol Neurotol (2004) 0.89

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. J Mol Med (Berl) (2014) 0.88

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing. BMC Med Genet (2014) 0.85

Haplotype analysis of the USH1D locus and genotype-phenotype correlations. Clin Genet (2001) 0.83

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. Orphanet J Rare Dis (2015) 0.81

Divergence of East Asians and Europeans estimated using male- and female-specific genetic markers. Genome Biol Evol (2014) 0.77