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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

American journal of human genetics, 2018-10, Vol.103 (4), p.484-497

2018

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An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1614-1618

2023

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Copy number variants are a common cause of non-syndromic hearing loss

Genome medicine, 2014-05, Vol.6 (5), p.37-37

2014

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PDZD7 and hearing loss: More than just a modifier

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2957-2965

2015

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Advancing genetic testing for deafness with genomic technology

Journal of medical genetics, 2013-09, Vol.50 (9), p.627-634

2013

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Deafness in the genomics era

Hearing research, 2011-12, Vol.282 (1), p.1-9

2011

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Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

Annals of otology, rhinology & laryngology, 2016-11, Vol.125 (11), p.918-923

2016

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De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.169S-176S

2015

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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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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Human genetics, 2016-04, Vol.135 (4), p.441-450

2016

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USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.123S-128S

2015

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Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (49), p.20948-20953

2009

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Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.184S-192S

2015

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Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

Annals of otology, rhinology & laryngology, 2015-05, Vol.124 (1_suppl), p.177S-183S

2015

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P036: Atypically mild ethylmalonic encephalopathy expands phenotypic spectrum

Genetics in Medicine Open, 2023, Vol.1 (1), p.100046, Article 100046

2023

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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Hearing research, 2017-05, Vol.348, p.138-142

2017

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Navigating genetic diagnostics in patients with hearing loss

Current opinion in pediatrics, 2016-12, Vol.28 (6), p.705-712

2016

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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Journal of medical genetics, 2015-12, Vol.52 (12), p.823-829

2015

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Cordova: web-based management of genetic variation data

Bioinformatics, 2014-12, Vol.30 (23), p.3438-3439

2014

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Audioprofile Surfaces: The 21st Century Audiogram

Annals of otology, rhinology & laryngology, 2016-05, Vol.125 (5), p.361-368

2016

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Divergence of Rho residue 43 impacts GEF activity

Small GTPases, 2012-01, Vol.3 (1), p.15-22

2012

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Ophthalmic genetics, 2020-04, Vol.41 (2), p.151-158

2020

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A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations

Ophthalmic genetics, 2017-03, Vol.38 (2), p.152-156

2017

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Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

Clinical genetics, 2016-04, Vol.89 (4), p.466-472

2016

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ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTYPIC SPECTRUM

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107489, Article 107489

2023

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Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant

Copy number variants are a common cause of non-syndromic hearing loss

PDZD7 and hearing loss: More than just a modifier

Advancing genetic testing for deafness with genomic technology

Deafness in the genomics era

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss

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

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss

Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

P036: Atypically mild ethylmalonic encephalopathy expands phenotypic spectrum

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Navigating genetic diagnostics in patients with hearing loss

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Cordova: web-based management of genetic variation data

Audioprofile Surfaces: The 21st Century Audiogram

Divergence of Rho residue 43 impacts GEF activity

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTYPIC SPECTRUM

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