(Q34675175)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Tobias Müller

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Indrajit Nanda

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Cordula Neuner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Michaela A H Hofrichter

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Jörg Schröder

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Oliver Bartsch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Anne Läßig

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Annerose Keilmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Sebastian Schraven

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Fabian Kraus

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Wafaa Shehata-Dieler

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Thomas Haaf

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

29 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

945-953

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

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

19 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=4262760

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Primer3--new capabilities and interfaces

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Mutational load analysis of unrelated individuals

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

What can exome sequencing do for you?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Testing for an unusual distribution of rare variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

MutationTaster evaluates disease-causing potential of sequence alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Does eating particular diets alter the risk of age-related macular degeneration in users of the Age-Related Eye Disease Study supplements?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Newborn hearing screening--a silent revolution

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Sensorineural hearing loss in children.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

The Human Gene Mutation Database: 2008 update

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

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://api.crossref.org/works/10.1038%2FGIM.2014.65

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL).

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4262760

Some distance properties of latent root and vector methods used in multivariate analysis

26 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.65

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

release_dqww65stlnf7vfbpx3ivtaetoa

19 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dqww65stlnf7vfbpx3ivtaetoa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

PubMed publication ID

24875298

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24875298%20AND%20SRC:MED&resulttype=core&format=json