Genetic epidemiology of hearing impairment.

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res (1999) 6.09

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85

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

Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet (1997) 2.82

GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet (2003) 1.96

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet (2003) 1.83

Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion (2010) 1.80

Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66

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

A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet (2004) 1.56

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49

Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia. J Cell Biol (2004) 1.47

Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. Hear Res (2001) 1.40

Ahl2, a second locus affecting age-related hearing loss in mice. Genomics (2002) 1.35

A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice. Proc Natl Acad Sci U S A (2005) 1.34

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis (2013) 1.22

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol (2008) 1.20

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion (2009) 1.19

A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics (1999) 1.16

At the speed of sound: gene discovery in the auditory system. Am J Hum Genet (2001) 1.15

Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet A (2009) 1.14

Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother (2009) 1.13

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat (2011) 1.13

A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss. Laryngoscope (2009) 1.12

A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics (2008) 1.12

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11

The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet (2009) 1.11

A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice. Neurobiol Aging (2008) 1.10

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss. Am J Pathol (2007) 1.08

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet (2008) 1.07

Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. J Med Genet (1993) 1.05

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet (1996) 1.04

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

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. J Hum Genet (2007) 1.02

Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J Assoc Res Otolaryngol (2004) 1.01

Relevance of connexin deafness (DFNB1) to human evolution. Am J Hum Genet (2004) 1.00

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. PLoS One (2014) 0.99

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. J Hum Genet (2009) 0.98

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement. Genet Med (2002) 0.98

The use of neurotrophin therapy in the inner ear to augment cochlear implantation outcomes. Anat Rec (Hoboken) (2012) 0.97

Detection of mutations in genes associated with hearing loss using a microarray-based approach. J Mol Diagn (2006) 0.96

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population. Int J Pediatr Otorhinolaryngol (2011) 0.95

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am J Hum Genet (1997) 0.94

Gene Therapy Restores Hair Cell Stereocilia Morphology in Inner Ears of Deaf Whirler Mice. Mol Ther (2015) 0.93

Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences. J Assoc Res Otolaryngol (2002) 0.93

Construction of a DNA chip for screening of genetic hearing loss. Clin Exp Otorhinolaryngol (2009) 0.93

Assembly of the cochlear gap junction macromolecular complex requires connexin 26. J Clin Invest (2014) 0.93

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One (2013) 0.92

Hearing loss and connexin 26. J R Soc Med (2002) 0.92

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. Iran J Public Health (2011) 0.91

Genetics of hearing loss: focus on DFNA2. Appl Clin Genet (2012) 0.90

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

DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet (2000) 0.89

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol Vis (2011) 0.87

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. Am J Hum Genet (2000) 0.87

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss. PLoS One (2011) 0.86

Cochlear implantation in common forms of genetic deafness. Int J Pediatr Otorhinolaryngol (2010) 0.86

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene. J Assoc Res Otolaryngol (2008) 0.86

Expression and localization of Tmie in adult rat cochlea. Histochem Cell Biol (2008) 0.85

Genetics of hearing loss: where are we standing now? Eur Arch Otorhinolaryngol (2012) 0.85

A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. Am J Med Genet A (2009) 0.85

Inner ear gene transfection in neonatal mice using adeno-associated viral vector: a comparison of two approaches. PLoS One (2012) 0.84

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS One (2014) 0.84

miRNA mutations are not a common cause of deafness. Am J Med Genet A (2010) 0.84

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing. Mol Genet Genomic Med (2015) 0.84

A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. PLoS One (2011) 0.83

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am J Med Genet A (2005) 0.83

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. J Hum Genet (2014) 0.83

A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3. Hum Genet (2008) 0.82

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Hum Genet (2010) 0.82

DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Hum Hered (2004) 0.82

Towards an etiologic diagnosis: assessing the patient with hearing loss. Adv Otorhinolaryngol (2011) 0.82

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet (2011) 0.82

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss. Curr Opin Otolaryngol Head Neck Surg (2008) 0.82

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. Laryngoscope (2010) 0.82

Chudley McCullough syndrome. Childs Nerv Syst (2007) 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

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran. Indian J Hum Genet (2009) 0.81

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. Eur J Hum Genet (2010) 0.81

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet (2008) 0.81

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan. Hum Hered (2003) 0.81

The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients. Eur Arch Otorhinolaryngol (2013) 0.81

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

In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. Otol Neurotol (2008) 0.80

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. J Med Genet (2005) 0.80

The Genetics of Deafness in Domestic Animals. Front Vet Sci (2015) 0.80

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population. BMC Med Genet (2011) 0.80

Adenosine kinase inhibition in the cochlea delays the onset of age-related hearing loss. Exp Gerontol (2011) 0.80

RFX transcription factors are essential for hearing in mice. Nat Commun (2015) 0.79

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. Clin Genet (2006) 0.79

Modifiers of hearing impairment in humans and mice. Curr Genomics (2010) 0.79

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. PLoS One (2016) 0.79

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet J Rare Dis (2015) 0.78

Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence. J Assoc Res Otolaryngol (2006) 0.78

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. BMC Med Genet (2015) 0.78

An automated microfluidic system for single-stranded DNA preparation and magnetic bead-based microarray analysis. Biomicrofluidics (2015) 0.78