Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. (Q38631746)

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English	Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.	scientific article

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scholarly article

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29 February 2020

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation (English)

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29 February 2020

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systematic review

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based on heuristic

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Ahmad N Abou Tayoun

1

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29 February 2020

Saeed H Al Turki

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29 February 2020

Amy L Hernandez

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Andrea M Oza

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29 February 2020

Mark J Bowser

4

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12 November 2015

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29 February 2020

Genetics in Medicine

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545-553

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29 February 2020

https://scigraph.springernature.com/pub.10.1038/gim.2015.141

0 references

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

ACMG clinical laboratory standards for next-generation sequencing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Guidelines for investigating causality of sequence variants in human disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Disease-targeted sequencing: a cornerstone in the clinic

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

A systematic approach to assessing the clinical significance of genetic variants.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Genic intolerance to functional variation and the interpretation of personal genomes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

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%2FGIM.2015.141

21 January 2018

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

MicroRNA gene expression in the mouse inner ear.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

MicroRNA-183 family members regulate sensorineural fates in the inner ear.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in TJP2 cause progressive cholestatic liver disease

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in GJB6 cause hidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.141

21 January 2018

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/26562227

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mutation in the human pres gene and its effect on prestin function

1 reference

https://pubmed.ncbi.nlm.nih.gov/26562227

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/26562227

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

1 reference

https://pubmed.ncbi.nlm.nih.gov/26562227

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2015.141

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562227%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26562227%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

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