Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss. Neural Plast (2016) 1.39

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

Genetics of vestibular disorders: pathophysiological insights. J Neurol (2016) 0.78

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science (2009) 3.72

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

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol (2010) 2.42

Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98

Bone-anchored hearing implant loading at 3 weeks: stability and tolerability after 6 months. Otol Neurotol (2013) 1.94

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88

Consensus statements on the BAHA system: where do we stand at present? Ann Otol Rhinol Laryngol Suppl (2005) 1.85

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78

Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76

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

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet (2009) 1.72

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67

Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63

Sonotubometry: eustachian tube ventilatory function test: a state-of-the-art review. Otol Neurotol (2005) 1.57

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet (2005) 1.54

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. Hum Mol Genet (2007) 1.52

GRM7 variants confer susceptibility to age-related hearing impairment. Hum Mol Genet (2008) 1.49

IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet (2011) 1.40

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology (2010) 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

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38

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

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun (2011) 1.33

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet (2005) 1.32

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat (2010) 1.31

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet (2006) 1.31

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24

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

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet (2002) 1.23

SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. Clin Cancer Res (2011) 1.22

Assessment of more than 1,000 implanted percutaneous bone conduction devices: skin reactions and implant survival. Otol Neurotol (2012) 1.21

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.19

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat (2008) 1.17

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet (2011) 1.16

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet (2012) 1.15

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci (2010) 1.15

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology (2010) 1.14

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

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci (2008) 1.14

USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat (2004) 1.13

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). Otol Neurotol (2005) 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 mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment. Hum Mutat (2002) 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

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet (2011) 1.12

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther (2006) 1.12

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol (2003) 1.12

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat (2008) 1.11

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet (2010) 1.11

Bone-anchored hearing aids in unilateral inner ear deafness. Acta Otolaryngol (2003) 1.10

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J Assoc Res Otolaryngol (2006) 1.09

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Hum Genet (2004) 1.07

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. Audiol Neurootol (2010) 1.07

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet (2010) 1.07

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet (2008) 1.07