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

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Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

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Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

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Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

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Deafness in the Genomics Era

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A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

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Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations

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Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

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Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

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Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication

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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

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A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach

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Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

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Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

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Performance Evaluation of the Next‐Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

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Incidental Medical Information in Whole-Exome Sequencing

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Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

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Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

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Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

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Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss

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Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

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Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B

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Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

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Comprehensive genetic testing can save lives in hereditary hearing loss

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The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

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Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family

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

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

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Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

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Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

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The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review

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Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

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Molecular diagnose of a large hearing loss population from China by targeted genome sequencing

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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

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Analysis of archived newborn dried blood spots (DBS) identifies congenital cytomegalovirus as a major cause of unexplained pediatric sensorineural hearing loss

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The GPSM2/LGN GoLoco motifs are essential for hearing

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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

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Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients

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Is there an unmet medical need for improved hearing restoration?

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Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel

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Advanced Omics Techniques for Understanding Cochlear Genome, Epigenome, and Transcriptome in Health and Disease

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Genetic Diagnosis of Deafness

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Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment

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Listening-Related Fatigue in Deaf and Hard of Hearing Students: Understanding and Managing the “Fatigue Factor”

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Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss

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A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

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Reprints and permission:

Care, S. O., Shearer, A. E., & Smith, R. J. H. (2016)

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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

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