Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population (Q41348549)

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scientific article published on 26 February 2015

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English	Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population	scientific article published on 26 February 2015

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 September 2017

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population (English)

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Europe PubMed Central

PubMed publication ID

29 September 2017

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sensorineural hearing loss

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Nayoung K D Kim

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25719458 AND SRC:MED&resulttype=core&format=json

4 June 2020

Ah Reum Kim

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25719458 AND SRC:MED&resulttype=core&format=json

4 June 2020

Kyung Tae Park

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25719458 AND SRC:MED&resulttype=core&format=json

4 June 2020

So Young Kim

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25719458 AND SRC:MED&resulttype=core&format=json

4 June 2020

Min Young Kim

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25719458 AND SRC:MED&resulttype=core&format=json

4 June 2020

Jae-Yong Nam

6

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4 June 2020

Se Joon Woo

7

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4 June 2020

Seung-Ha Oh

8

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4 June 2020

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publication date

26 February 2015

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29 September 2017

Genetics in Medicine

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4 June 2020

17

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4 June 2020

11

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4 June 2020

901-911

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4 June 2020

Review of congenital inner ear abnormalities on CT temporal bone

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Genetics: advances in genetic testing for deafness

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Newborn hearing screening--a silent revolution

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Genetic screening for deafness.

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Fast and accurate long-read alignment with Burrows-Wheeler transform

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

The Sequence Alignment/Map format and SAMtools

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

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

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Activation of a photodissociative ruthenium complex by triplet-triplet annihilation upconversion in liposomes.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Audiological findings in 100 USH2 patients

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

21 January 2018

Dopamine D2 receptor gene variants: association and linkage studies in impulsive-addictive-compulsive behaviour

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7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity of deafness phenotypes linked to DFNA4

1 reference

https://api.crossref.org/works/10.1038/GIM.2014.213

7 January 2021

based on heuristic

inferred from DOI database lookup

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