Published in Hum Mutat on May 01, 2007
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
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
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet (2008) 1.15
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells. EMBO Mol Med (2009) 1.01
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet (2009) 1.01
CLIC5A, a component of the ezrin-podocalyxin complex in glomeruli, is a determinant of podocyte integrity. Am J Physiol Renal Physiol (2010) 0.99
Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet (2008) 0.96
Actin in hair cells and hearing loss. Hear Res (2011) 0.95
Large membrane domains in hair bundles specify spatially constricted radixin activation. J Neurosci (2012) 0.93
Differential involvement of ezrin/radixin/moesin proteins in sphingosine 1-phosphate-induced human pulmonary endothelial cell barrier enhancement. Cell Signal (2011) 0.91
Finding new genes for non-syndromic hearing loss through an in silico prioritization study. PLoS One (2010) 0.90
ERM proteins at a glance. J Cell Sci (2014) 0.90
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet (2014) 0.86
miRNA mutations are not a common cause of deafness. Am J Med Genet A (2010) 0.84
CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. Cytoskeleton (Hoboken) (2013) 0.83
A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3. Hum Genet (2008) 0.82
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A (2009) 0.82
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet (2016) 0.81
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet (2012) 0.80
Noise-induced cochlear F-actin depolymerization is mediated via ROCK2/p-ERM signaling. J Neurochem (2015) 0.79
Genetics of auditory mechano-electrical transduction. Pflugers Arch (2014) 0.79
Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. Elife (2016) 0.78
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. Genet Test Mol Biomarkers (2015) 0.78
Staurosporine-induced collapse of cochlear hair bundles. J Comp Neurol (2014) 0.76
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genet Res Int (2011) 0.76
Genetics of Nonsyndromic Congenital Hearing Loss. Scientifica (Cairo) (2016) 0.75
Noise stresses the junctions to deaf. EMBO Mol Med (2009) 0.75
The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar. Indian J Hum Genet (2012) 0.75
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells. PLoS One (2017) 0.75
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol (2005) 3.57
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Int (2009) 3.12
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med (2010) 3.09
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int (2012) 3.05
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. Kidney Int (2011) 2.61
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat (2010) 2.44
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci (2006) 2.41
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet (2003) 2.36
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
Frequency distribution of hepatitis C virus genotypes in different geographical regions of Pakistan and their possible routes of transmission. BMC Infect Dis (2008) 2.19
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet (2003) 2.14
Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet (2004) 2.11
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A (2003) 2.04
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell (2010) 1.94
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.94
Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement. Clin J Am Soc Nephrol (2011) 1.92
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
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol (2005) 1.82
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
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat (2004) 1.77
Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol (2013) 1.77
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A (2009) 1.74
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet (2004) 1.73
Causes of alternative pathway dysregulation in dense deposit disease. Clin J Am Soc Nephrol (2012) 1.70
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66
Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem (2007) 1.66
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
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet (2002) 1.62
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet (2007) 1.59
Dense deposit disease associated with monoclonal gammopathy of undetermined significance. Am J Kidney Dis (2010) 1.57
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med (2010) 1.56
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet (2003) 1.51
New treatment options for lymphangioma in infants and children. Ann Otol Rhinol Laryngol (2002) 1.50
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat (2007) 1.44
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy. Clin J Am Soc Nephrol (2010) 1.42
Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis. Ann Otol Rhinol Laryngol (2005) 1.41
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38