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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings

Human genetics, 2022-04, Vol.141 (3-4), p.387-400

2022

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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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Editorial to the Special Issue on “The molecular genetics of hearing and deafness”

Human genetics, 2022-04, Vol.141 (3-4), p.305-306

2022

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A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Genetics in medicine, 2019-11, Vol.21 (11), p.2614-2630

2019

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

Proceedings of the National Academy of Sciences - PNAS, 2010-12, Vol.107 (49), p.21104-21109

2010

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Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History

Audiology & neurotology, 2023-12, Vol.28 (6), p.407-419

2023

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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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Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy

Current opinion in otolaryngology & head and neck surgery, 2024-10, Vol.32 (5), p.352-356

Shearer, A Eliot

2024

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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Genetics in medicine, 2010-08, Vol.12 (8), p.512-516

2010

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Auditory synaptopathy, auditory neuropathy, and cochlear implantation

Laryngoscope investigative otolaryngology, 2019-08, Vol.4 (4), p.429-440

2019

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Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Hearing research, 2012-10, Vol.292 (1-2), p.51-58

2012

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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Human molecular genetics, 2015-08, Vol.24 (16), p.4483-4490

2015

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Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1857-1864

2012

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Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

Proceedings of the National Academy of Sciences - PNAS, 2011-03, Vol.108 (10), p.4218-4223

2011

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

Genome biology, 2011-09, Vol.12 (9), p.R85-R85, Article R85

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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Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients

The Laryngoscope, 2023-06, Vol.133 (6), p.1501-1506

2023

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Hearing Loss in the 21st Century and Beyond: A New Era of Precision Diagnosis and Treatment Using Genomics

The Volta review, 2023, Vol.123 (1), p.35-44

Shearer, A. Eliot

2023

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Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

Otolaryngology-head and neck surgery, 2015-08, Vol.153 (2), p.175-182

2015

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Use of the Teres Major Muscle in Chimeric Subscapular System Free Flaps for Head and Neck Reconstruction

JAMA otolaryngology-- head & neck surgery, 2015-09, Vol.141 (9), p.816

2015

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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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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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Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

BMC genomics, 2012-11, Vol.13 (1), p.618-618, Article 618

2012

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High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

Laryngoscope investigative otolaryngology, 2024-06, Vol.9 (3), p.e1291-n/a

2024

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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Editorial to the Special Issue on “The molecular genetics of hearing and deafness”

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

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

Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

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

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients

Hearing Loss in the 21st Century and Beyond: A New Era of Precision Diagnosis and Treatment Using Genomics

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

Use of the Teres Major Muscle in Chimeric Subscapular System Free Flaps for Head and Neck Reconstruction

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

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

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

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