(Q34833228)

4 August 2017

title

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families (English)

1 reference

4 August 2017

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5

Un-Kyung Kim

1 reference

4 August 2017

Hae-Mi Woo

1

1 reference

4 August 2017

Hong-Joon Park

2

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4 August 2017

Jeong-In Baek

3

1 reference

4 August 2017

Mi-Hyun Park

4

1 reference

4 August 2017

Borum Sagong

6

1 reference

4 August 2017

Soo Kyung Koo

7

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4 August 2017

publication date

17 July 2013

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4 August 2017

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4 August 2017

volume

14

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4 August 2017

page(s)

72

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

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Tablet--next generation sequence assembly visualization

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Exome sequencing identifies the cause of a mendelian disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Targeted capture and massively parallel sequencing of 12 human exomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Sensorineural hearing loss in children.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

A millennial myosin census

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

8 July 2018

Myosins and deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3727941

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-72

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-72

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-72

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-72

A microtubule-binding myosin required for nuclear anchoring and spindle assembly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-72

21 January 2018

Identifiers

DOI

10.1186/1471-2350-14-72

1 reference

Dimensions Publication ID

4 August 2017

0 references

1 reference

4 August 2017

1 reference