Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness (Q30572046)

21 August 2017

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness (English)

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21 August 2017

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5

Donna Muzny

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James R. Lupski

8

object named as

James R Lupski

1 reference

21 August 2017

9

Richard A Gibbs

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21 August 2017

Neil A Hanchard

1

1 reference

21 August 2017

David R Murdock

2

1 reference

21 August 2017

Pilar L Magoulas

3

1 reference

21 August 2017

Matthew Bainbridge

4

1 reference

21 August 2017

YuanQing Wu

6

1 reference

21 August 2017

Min Wang

7

1 reference

21 August 2017

Chester W Brown

10

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21 August 2017

11 September 2012

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21 August 2017

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21 August 2017

83

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21 August 2017

5

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21 August 2017

457-461

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Human genome sequencing in health and disease

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Whole-genome sequencing for optimized patient management

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Exome sequencing: the sweet spot before whole genomes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

A method and server for predicting damaging missense mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Exome sequencing identifies the cause of a mendelian disorder

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Correlating phenotype and genotype in the periodic paralyses

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926310

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

14 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01951.X

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01951.X

Rate, molecular spectrum, and consequences of human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01951.X

Variation in genome-wide mutation rates within and between human families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01951.X

Editorial comment on "Whole exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria"

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01951.X

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22901280

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22901280

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/J.1399-0004.2012.01951.X

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

22901280

1 reference