Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care (Q38267074)

1 September 2017

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title

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

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1 September 2017

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2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

author name string

A Eliot Shearer

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

publication date

17 June 2015

1 reference

Otolaryngology—Head and Neck Surgery

1 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

volume

153

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

issue

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

175-182

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

13 June 2020

cites work

1 reference

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

6 September 2017

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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

6 September 2017

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

6 September 2017

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

6 September 2017

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

6 September 2017

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Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating

6 September 2017

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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.

6 September 2017

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

6 September 2017

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Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

6 September 2017

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Comprehensive genetic testing can save lives in hereditary hearing loss

6 September 2017

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The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry

6 September 2017

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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

6 September 2017

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Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS.

6 September 2017

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Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss

6 September 2017

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ACMG clinical laboratory standards for next-generation sequencing

6 September 2017

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Advancing genetic testing for deafness with genomic technology

6 September 2017

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Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

6 September 2017

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Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

6 September 2017

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Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family

6 September 2017

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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.

6 September 2017

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Disease-targeted sequencing: a cornerstone in the clinic

6 September 2017

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Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment

6 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

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

6 September 2017

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Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

6 September 2017

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

6 September 2017

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Incidental medical information in whole-exome sequencing

6 September 2017

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A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach

6 September 2017

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Taxonomizing, sizing, and overcoming the incidentalome

6 September 2017

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6 September 2017

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Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

6 September 2017

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

6 September 2017

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

6 September 2017

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6 September 2017

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Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

6 September 2017

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6 September 2017

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Genome sequencing in microfabricated high-density picolitre reactors

6 September 2017

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GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

6 September 2017

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DNA sequencing with chain-terminating inhibitors

6 September 2017

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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

6 September 2017

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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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

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

23 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4743024

Mutations inGJB2,GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177/0194599815591156

21 January 2018

Identifiers

DOI

10.1177/0194599815591156

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json

13 June 2020

PubMed publication ID

26084827

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26084827 AND SRC:MED&resulttype=core&format=json