Published in Am J Hum Genet on April 23, 2007
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat (2009) 2.25
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
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Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet (2007) 1.24
The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis. PLoS One (2009) 1.21
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One (2012) 1.20
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet (2009) 1.16
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci U S A (2008) 1.15
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis (2013) 1.12
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res (2011) 1.11
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
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Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet (2008) 0.96
SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS Genet (2013) 0.92
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. J Hum Genet (2014) 0.90
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet (2009) 0.87
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet (2013) 0.85
Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function. Cell Physiol Biochem (2011) 0.84
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. PeerJ (2014) 0.83
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. J Mol Diagn (2011) 0.80
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genet Med (2015) 0.80
Etiology and audiological outcomes at 3 years for 364 children in Australia. PLoS One (2013) 0.79
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr (2008) 0.79
Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear. Dev Biol (2014) 0.79
The role of foxi family transcription factors in the development of the ear and jaw. Curr Top Dev Biol (2015) 0.79
Transcriptional regulation of the pendrin gene. Cell Physiol Biochem (2011) 0.78
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. PLoS One (2014) 0.78
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. J Transl Med (2012) 0.78
Integration of human and mouse genetics reveals pendrin function in hearing and deafness. Cell Physiol Biochem (2011) 0.77
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. World J Otorhinolaryngol (2013) 0.77
Unresolved questions regarding human hereditary deafness. Oral Dis (2016) 0.76
African signatures of recent positive selection in human FOXI1. BMC Evol Biol (2010) 0.76
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. PLoS One (2016) 0.75
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PLoS One (2017) 0.75
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct. J Transl Med (2012) 0.75
Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans. Neural Plast (2016) 0.75
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. Orphanet J Rare Dis (2017) 0.75
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. Eur Arch Otorhinolaryngol (2014) 0.75
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope (2015) 0.75
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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet (2006) 1.11
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GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
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A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci (2007) 1.90
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement. Kidney Int (2012) 1.81
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet (2003) 1.80
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat (2004) 1.77
Causes of alternative pathway dysregulation in dense deposit disease. Clin J Am Soc Nephrol (2012) 1.70
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Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet (2008) 1.65
Dense deposit disease associated with monoclonal gammopathy of undetermined significance. Am J Kidney Dis (2010) 1.57
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Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
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Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49
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No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol (2011) 1.38
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet (2002) 1.37
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
Deafness in the genomics era. Hear Res (2011) 1.37
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet (2009) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet (2006) 1.36
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Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A (2004) 1.32
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