(Q27324049)

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26226137%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26226137%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

autosomal recessive nonsyndromic deafness

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20 February 2020

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20 February 2020

Suna Tokgöz Yilmaz

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20 February 2020

Edgar Hernández-Zamora

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20 February 2020

Rosario Paredes

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20 February 2020

Germania Moreta

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20 February 2020

Rodrigo Vinueza

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20 February 2020

Franklin Villegas

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20 February 2020

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20 February 2020

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Joseph Foster

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20 February 2020

Nejat Mahdieh

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20 February 2020

Mortaza Bonyadi

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20 February 2020

F Basak Cengiz

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20 February 2020

Ibis Menendez

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20 February 2020

Oscar Diaz-Horta

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20 February 2020

Atefeh Shirkavand

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20 February 2020

Sirous Zeinali

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20 February 2020

Asli Subasioglu

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20 February 2020

Fabiola Huesca-Hernandez

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20 February 2020

Maria de la Luz Arenas-Sordo

14

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20 February 2020

Juan Dominguez-Aburto

15

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20 February 2020

Paola Montenegro

17

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20 February 2020

Santiago Mendoza-Benitez

22

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20 February 2020

Shengru Guo

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20 February 2020

Nazim Bozan

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20 February 2020

Tulay Tos

25

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20 February 2020

Armagan Incesulu

26

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20 February 2020

Gonca Sennaroglu

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20 February 2020

Susan H Blanton

28

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20 February 2020

Hatice Ozturkmen-Akay

29

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20 February 2020

Muzeyyen Yildirim-Baylan

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20 February 2020

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30 July 2015

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20 February 2020

Genetics in Medicine

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20 February 2020

18

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20 February 2020

4

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20 February 2020

364-371

1 reference

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20 February 2020

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

Autosomal recessive nonsyndromic deafness genes: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

Tricellulin is a tight-junction protein necessary for hearing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

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

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21 March 2017

A method and server for predicting damaging missense mutations

1 reference

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21 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

Two frequent missense mutations in Pendred syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

21 March 2017

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

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7 April 2017

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

1 reference

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7 April 2017

Whole-exome sequencing and its impact in hereditary hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

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28 September 2017

Copy number variation detection and genotyping from exome sequence data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Predicting the functional impact of protein mutations: application to cancer genomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Development of a genotyping microarray for Usher syndrome

1 reference

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28 September 2017

Newborn hearing screening--a silent revolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

28 September 2017

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

2 June 2018

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733433

2 June 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.89

21 January 2018

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.89

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%2FGIM.2015.89

21 January 2018

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.89

21 January 2018

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.89

21 January 2018

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.89

21 January 2018

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I

1 reference

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12 December 2020

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10.1038/GIM.2015.89

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20 February 2020

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24 November 2022

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Europe PubMed Central

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20 February 2020

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20 February 2020

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