Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. (Q50127011)

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14 March 2020

title

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders (English)

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13

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7

Christopher Bizon

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20

Jonathan S Berg

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Alicia Brandt

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Kirk C Wilhelmsen

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14 March 2020

author name string

Gloria T Haskell

1

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14 March 2020

Michael C Adams

2

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Zheng Fan

3

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14 March 2020

Krunal Amin

4

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14 March 2020

Roberto J Guzman Badillo

5

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Linran Zhou

6

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14 March 2020

Nizar Chahin

8

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14 March 2020

Robert S Greenwood

9

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14 March 2020

Laura V Milko

10

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14 March 2020

Yael Shiloh-Malawsky

11

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14 March 2020

Kristy R Crooks

12

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14 March 2020

Michael Tennison

14

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14 March 2020

Christian R Tilley

15

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Karen Weck

18

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14 March 2020

James P Evans

19

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14 March 2020

publication date

1 February 2018

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14 March 2020

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volume

4

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issue

1

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page(s)

e212

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Next-generation sequencing in neuromuscular diseases

14 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

Analysis of protein-coding genetic variation in 60,706 humans

22 May 2018

1 reference

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Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

Clinical exome sequencing in neurologic disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

ClinVar: public archive of interpretations of clinically relevant variants

22 May 2018

1 reference

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A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

22 May 2018

1 reference

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

22 May 2018

1 reference

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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

A general framework for estimating the relative pathogenicity of human genetic variants

22 May 2018

1 reference

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5798313

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

14 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29417091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/NXG.0000000000000212

1 reference

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14 March 2020

1 reference

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14 March 2020

PubMed publication ID

29417091

1 reference