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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

American journal of human genetics, 2011-05, Vol.88 (5), p.628-634

2011

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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

American journal of human genetics, 2010-04, Vol.86 (4), p.604-610

2010

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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

American journal of human genetics, 2010-02, Vol.86 (2), p.138-147

2010

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AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

Human mutation, 2013-04, Vol.34 (4), p.539-545

2013

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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice

PLoS genetics, 2015-03, Vol.11 (3), p.e1005137-e1005137

2015

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A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

The Laryngoscope, 2010-12, Vol.120 (12), p.2489-2493

2010

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Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

Audiology & neurotology, 2011-01, Vol.16 (2), p.93-105

2011

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Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Biomolecules (Basel, Switzerland), 2022-01, Vol.12 (2), p.220

2022

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Clinical outcome of the simplified surgical technique for BAHA implantation

Otology & neurotology, 2008-12, Vol.29 (8), p.1100-1108

2008

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Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

Journal of the Association for Research in Otolaryngology, 2011-12, Vol.12 (6), p.753-766

2011

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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

Journal of the Association for Research in Otolaryngology, 2008-09, Vol.9 (3), p.264-276

2008

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Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

Human molecular genetics, 2006-04, Vol.15 (7), p.1071-1085

2006

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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Genetics in medicine, 2019-04, Vol.21 (4), p.948-954

2019

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Nijmegen Results with Application of a Bone-Anchored Hearing Aid in Children: Simplified Surgical Technique

Annals of otology, rhinology & laryngology, 2008-11, Vol.117 (11), p.805-814

2008

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A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

The Laryngoscope, 2009-11, Vol.119 (11), p.2211-2215

2009

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Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

Annals of otology, rhinology & laryngology, 2010-12, Vol.119 (12), p.830-835

2010

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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

Hearing research, 2016-09, Vol.339, p.60-68

2016

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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

Otology & neurotology, 2021-04, Vol.42 (4), p.e399-e407

2021

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Audiological Characteristics of Some Affected Members of a Dutch DFNA13/COL11A2 Family

Annals of otology, rhinology & laryngology, 2004-11, Vol.113 (11), p.922-929

2004

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Phenotype of the first otosclerosis family linked to OTSC10

The Laryngoscope, 2011-04, Vol.121 (4), p.838-845

2011

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Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family

Annals of otology, rhinology & laryngology, 2011-04, Vol.120 (4), p.243-248

2011

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Phenotype Analysis of an Australian DFNA9 Family with the I109N COCH Mutation

Annals of otology, rhinology & laryngology, 2011-06, Vol.120 (6), p.414-421

2011

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Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Ear and hearing, 2016-01, Vol.37 (1), p.112-120

2016

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Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

Annals of otology, rhinology & laryngology, 2011-03, Vol.120 (3), p.191-197

2011

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Diagnosis and treatment of the Pierre Robin sequence : results of a retrospective clinical study and review of the literature

European journal of pediatrics, 2001, Vol.160 (1), p.47-53

2001

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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Clinical outcome of the simplified surgical technique for BAHA implantation

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

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

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Nijmegen Results with Application of a Bone-Anchored Hearing Aid in Children: Simplified Surgical Technique

A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

Audiological Characteristics of Some Affected Members of a Dutch DFNA13/COL11A2 Family

Phenotype of the first otosclerosis family linked to OTSC10

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family

Phenotype Analysis of an Australian DFNA9 Family with the I109N COCH Mutation

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

Diagnosis and treatment of the Pierre Robin sequence : results of a retrospective clinical study and review of the literature

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