The usefulness of whole-exome sequencing in routine clinical practice. (Q50657606)

17 March 2018

title

The usefulness of whole-exome sequencing in routine clinical practice. (English)

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17 March 2018

Kwame Anyane-Yeboa

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Julia Wynn

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object named as

Julia Wynn

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17 March 2018

author name string

Alejandro Iglesias

1

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17 March 2018

Ashley Wilson

4

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Megan Truitt Cho

5

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Edwin Guzman

6

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Rebecca Sisson

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Claire Egan

8

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Wendy K Chung

9

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17 March 2018

language of work or name

English

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publication date

5 June 2014

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17 March 2018

published in

Genetics in Medicine

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volume

16

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issue

12

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17 March 2018

page(s)

922-931

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17 March 2018

https://scigraph.springernature.com/pub.10.1038/gim.2014.58

exact match

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cites work

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.58

Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.58

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2014.58

Genomics in clinical practice: lessons from the front lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

inferred from DOI database lookup

7 January 2021

based on heuristic

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

inferred from DOI database lookup

7 January 2021

based on heuristic

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.58

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.58

1 reference

17 March 2018

Microsoft Academic ID

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1 reference

17 March 2018