(Q34274871)

1 August 2017

title

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

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1 August 2017

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Congenital hearing loss

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15

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1 August 2017

Filip Pattyn

10

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Filip Van Nieuwerburgh

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Filip Van Nieuwerburgh

8

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Dieter Deforce

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Dieter Deforce

12

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Guy Van Camp

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Guy Van Camp

16

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author name string

Sarah De Keulenaer

1

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1 August 2017

Jan Hellemans

2

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Steve Lefever

3

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Jean-Pierre Renard

4

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Joachim De Schrijver

5

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Hendrik Van de Voorde

6

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Mohammad Amin Tabatabaiefar

7

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Daisy Flamez

9

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Bieke Scharlaken

11

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Sofie Bekaert

13

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Wim Van Criekinge

14

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Paul Coucke

17

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1 August 2017

publication date

18 May 2012

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1 August 2017

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1 August 2017

volume

5

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1 August 2017

page(s)

17

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https://scigraph.springernature.com/pub.10.1186/1755-8794-5-17

1 August 2017

exact match

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cites work

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

The impact of next-generation sequencing on genomics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Newborn hearing screening--a silent revolution

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

BLAT—The BLAST-Like Alignment Tool

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443074

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8794-5-17

21 January 2018

Identifiers

DOI

10.1186/1755-8794-5-17

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Dimensions Publication ID

1 August 2017

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1 August 2017

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