(Q34551175)

3 August 2017

title

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

0 references

1 reference

Arunkanth Ankala

2

0 references

author name string

C Alexander Valencia

1

1 reference

3 August 2017

Devin Rhodenizer

3

1 reference

3 August 2017

Shruti Bhide

4

1 reference

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

1 reference

3 August 2017

Madhuri Hegde

10

1 reference

3 August 2017

language of work or name

English

0 references

publication date

11 January 2013

1 reference

3 August 2017

1 reference

3 August 2017

volume

8

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

e53083

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

11 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Assuring the quality of next-generation sequencing in clinical laboratory practice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Massively parallel sequencing of ataxia genes after array-based enrichment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Sequencing technologies - the next generation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Exome sequencing identifies the cause of a mendelian disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Microdroplet-based PCR enrichment for large-scale targeted sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Next-generation sequencing: from basic research to diagnostics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Genome-wide in situ exon capture for selective resequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Multiplex amplification of large sets of human exons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Direct selection of human genomic loci by microarray hybridization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

The congenital muscular dystrophies: recent advances and molecular insights

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

Congenital muscular dystrophies and the extracellular matrix

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3543442

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

1 reference

Crossref

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

Crossref

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

0 references

1 reference

3 August 2017

1 reference