Advancing genetic testing for deafness with genomic technology (Q30444538)

20 August 2017

Advancing genetic testing for deafness with genomic technology (English)

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20 August 2017

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Michael S. Hildebrand

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20 August 2017

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20 August 2017

Todd E Scheetz

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A Eliot Shearer

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20 August 2017

E Ann Black-Ziegelbein

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20 August 2017

Robert W Eppsteiner

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20 August 2017

Harini Ravi

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20 August 2017

Swati Joshi

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20 August 2017

Angelica C Guiffre

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20 August 2017

Christina M Sloan

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20 August 2017

Scott Happe

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20 August 2017

Susanna D Howard

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20 August 2017

Barbara Novak

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20 August 2017

Kyle R Taylor

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20 August 2017

Terry A Braun

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20 August 2017

Thomas L Casavant

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20 August 2017

William J Kimberling

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20 August 2017

Emily M Leproust

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20 August 2017

Richard J H Smith

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20 August 2017

language of work or name

English

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publication date

26 June 2013

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Journal of Medical Genetics

20 August 2017

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20 August 2017

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20 August 2017

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20 August 2017

627-634

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

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Solution-based targeted genomic enrichment for precious DNA samples

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Taxonomizing, sizing, and overcoming the incidentalome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Assessing the enrichment performance in targeted resequencing experiments

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Accurate and exact CNV identification from targeted high-throughput sequence data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Fast and accurate short read alignment with Burrows-Wheeler transform

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Newborn hearing screening--a silent revolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

Genetic epidemiology of hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

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

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101749

Newborn hearing screening vs later hearing screening and developmental outcomes in children with permanent childhood hearing impairment.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101749

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3887546

10.1136/JMEDGENET-2013-101749

26 November 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23804846

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