Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel (Q34551175)

3 August 2017

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel (English)

1 reference

congenital muscular dystrophy

3 August 2017

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1 reference

Arunkanth Ankala

2

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author name string

C Alexander Valencia

1

1 reference

3 August 2017

Devin Rhodenizer

3

1 reference

3 August 2017

Shruti Bhide

4

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3 August 2017

Martin Robert Littlejohn

5

1 reference

3 August 2017

Lisa Mari Keong

6

1 reference

3 August 2017

Anne Rutkowski

7

1 reference

3 August 2017

Susan Sparks

8

1 reference

3 August 2017

Carsten Bonnemann

9

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3 August 2017

Madhuri Hegde

10

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3 August 2017

language of work or name

English

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publication date

11 January 2013

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3 August 2017

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3 August 2017

8

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3 August 2017

1

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3 August 2017

e53083

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Creative Commons Attribution 4.0 International

3 August 2017

start time

11 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.

7 July 2018

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Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy

7 July 2018

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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

7 July 2018

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

7 July 2018

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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

7 July 2018

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

7 July 2018

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Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa

7 July 2018

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Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

7 July 2018

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Massively parallel sequencing of ataxia genes after array-based enrichment

7 July 2018

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Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

7 July 2018

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Sequencing technologies - the next generation

7 July 2018

1 reference

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Exome sequencing identifies the cause of a mendelian disorder

7 July 2018

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Microdroplet-based PCR enrichment for large-scale targeted sequencing

7 July 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing

7 July 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

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Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives

7 July 2018

1 reference

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Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing

7 July 2018

1 reference

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Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

7 July 2018

1 reference

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Next-generation sequencing: from basic research to diagnostics

7 July 2018

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

7 July 2018

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Keeping up with the next generation: massively parallel sequencing in clinical diagnostics

7 July 2018

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Genome-wide in situ exon capture for selective resequencing

7 July 2018

1 reference

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Multiplex amplification of large sets of human exons

7 July 2018

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Direct selection of human genomic loci by microarray hybridization

7 July 2018

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The congenital muscular dystrophies: recent advances and molecular insights

7 July 2018

1 reference

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Congenital muscular dystrophies: new aspects of an expanding group of disorders

7 July 2018

1 reference

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Congenital muscular dystrophies and the extracellular matrix

7 July 2018

1 reference

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The congenital muscular dystrophies in 2004: a century of exciting progress

7 July 2018

1 reference

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Microarray-based genomic selection for high-throughput resequencing.

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0053083

Targeted sequencing with microfluidics.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0053083

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

21 January 2018

1 reference

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0053083

10.1371/JOURNAL.PONE.0053083

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

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3 August 2017

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