Published in Genet Test Mol Biomarkers on June 01, 2010
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS One (2014) 0.99
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. PLoS One (2014) 0.90
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS One (2014) 0.84
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. Mol Genet Genomic Med (2015) 0.84
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. PLoS One (2014) 0.82
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations. Genet Test Mol Biomarkers (2014) 0.79
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? Medicine (Baltimore) (2016) 0.78
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. Genet Test Mol Biomarkers (2015) 0.78
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss. J Transl Med (2016) 0.78
Recessive mutations of TMC1 associated with moderate to severe hearing loss. Neurogenetics (2016) 0.76
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet (2000) 4.63
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet (2000) 2.29
Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet (2004) 1.82
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
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet (2001) 1.49
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat (2008) 1.39
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat (2005) 1.28
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin Genet (2007) 1.26
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Hum Mutat (2005) 1.24
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet (2003) 1.22
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol (2009) 1.17
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat (2005) 1.16
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol Neurootol (2008) 1.16
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet (1996) 1.10
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. J Clin Endocrinol Metab (2003) 0.94
Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol (2004) 0.92
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele. Clin Genet (2003) 0.92
The effect of religious, cultural and social identity on population genetic structure among Muslims in Pakistan. Ann Hum Biol (2005) 0.89
Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation. Clin Genet (2005) 0.85
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. Int J Pediatr Otorhinolaryngol (2009) 0.85
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
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol (2012) 3.86
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
Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Int (2009) 3.12
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int (2012) 3.05
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet (2003) 2.98
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
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children. J Allergy Clin Immunol (2004) 2.12
Passive smoking increases pain perception in children undergoing venous catheterization. Acta Paediatr (2013) 2.02
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
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
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
A deafness mutation isolates a second role for the tectorial membrane in hearing. Nat Neurosci (2005) 1.81
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement. Kidney Int (2012) 1.81
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
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
Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition. Proc Natl Acad Sci U S A (2009) 1.76
A dominant-negative GFI1B mutation in the gray platelet syndrome. N Engl J Med (2013) 1.75
Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study. J Assoc Res Otolaryngol (2008) 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
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 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
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A (2002) 1.65
Proteomic approaches for discovering biomarkers of diabetic nephropathy. Nephrol Dial Transplant (2010) 1.64
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet (2003) 1.60
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
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet (2007) 1.52
Pericardial effusion in atrial fibrillation ablation: a comparison between cryoballoon and radiofrequency pulmonary vein isolation. Europace (2010) 1.52
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet (2006) 1.51
New treatment options for lymphangioma in infants and children. Ann Otol Rhinol Laryngol (2002) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet (2008) 1.49
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49
Assessment of ventricular repolarization in a large group of children with early onset deafness. Pacing Clin Electrophysiol (2004) 1.46
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet (2012) 1.46
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
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Tissue Doppler imaging does not show infraclinical alteration of myocardial function after contrast echocardiography. Eur J Echocardiogr (2005) 1.38
Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol (2011) 1.38
Tag STS in the AZF region associated with azoospermia in a Tunisian population. J Androl (2007) 1.38
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet (2002) 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
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat (2008) 1.35
Branchio-oto-renal syndrome. Am J Med Genet A (2007) 1.34
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun (2011) 1.33
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem (2004) 1.32
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol (2013) 1.32
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
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics (2012) 1.32
Genetic studies on noise-induced hearing loss: a review. Ear Hear (2009) 1.30
A claudin-9-based ion permeability barrier is essential for hearing. PLoS Genet (2009) 1.29
Inactivation of NADPH oxidase organizer 1 results in severe imbalance. Curr Biol (2006) 1.27
Advances in molecular and cellular therapies for hearing loss. Mol Ther (2007) 1.25