Copy number variants are a common cause of non-syndromic hearing loss (Q33796395)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24963352 AND SRC:MED&resulttype=core&format=json

21 March 2020

title

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

1 reference

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21 March 2020

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10

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21 March 2020

author name string

A Eliot Shearer

1

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21 March 2020

Diana L Kolbe

2

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21 March 2020

Hela Azaiez

3

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21 March 2020

Christina M Sloan

4

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21 March 2020

Kathy L Frees

5

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21 March 2020

Amy E Weaver

6

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21 March 2020

Erika T Clark

7

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21 March 2020

Carla J Nishimura

8

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21 March 2020

E Ann Black-Ziegelbein

9

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21 March 2020

publication date

22 May 2014

1 reference

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21 March 2020

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21 March 2020

volume

6

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21 March 2020

issue

5

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21 March 2020

page(s)

37

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DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Advancing genetic testing for deafness with genomic technology

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Assessing the enrichment performance in targeted resequencing experiments

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Structural variation in the human genome and its role in disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Copy number variation in human health, disease, and evolution

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

The Sequence Alignment/Map format and SAMtools

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Fast and accurate short read alignment with Burrows-Wheeler transform

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Mechanisms for human genomic rearrangements

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4067994

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/GM554

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/GM554

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/GM554

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=4067994

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24963352

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/GM554

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24963352 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24963352 AND SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24963352

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24963352 AND SRC:MED&resulttype=core&format=json