(Q30586706)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Duygu Duman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Mustafa Tekin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Oscar Diaz-Horta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Shengru Guo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Derek Van Booven

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Joseph Foster

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Filiz Basak Cengiz

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Susan Blanton

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

publication date

25 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

Genetic Testing and Molecular Biomarkers

10 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

658-661

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

An evaluation of copy number variation detection tools from whole-exome sequencing data

10 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=4150376

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

Using ERDS to infer copy-number variants in high-coverage genomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

Copy number variation detection and genotyping from exome 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=4150376

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

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=4150376

Fast and accurate long-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=4150376

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian 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=4150376

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

Nonsyndromic hearing impairment: unparalleled heterogeneity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

A cost-effectiveness analysis of newborn hearing screening strategies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4150376

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25062256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1089/GTMB.2014.0121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

25062256

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25062256%20AND%20SRC:MED&resulttype=core&format=json