(Q87011448)

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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing

scientific article published on 28 May 2013

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3 March 2020

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing (English)

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3 March 2020

author name string

Melanie A Jones

1

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3 March 2020

Devin Rhodenizer

2

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3 March 2020

Cristina da Silva

3

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3 March 2020

Israel J Huff

4

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3 March 2020

Lisa Keong

5

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3 March 2020

Lora J H Bean

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3 March 2020

Bradford Coffee

7

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3 March 2020

Christin Collins

8

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3 March 2020

Alice K Tanner

9

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3 March 2020

Miao He

10

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3 March 2020

Madhuri R Hegde

11

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3 March 2020

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28 May 2013

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3 March 2020

Molecular Genetics and Metabolism

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3 March 2020

110

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3 March 2020

1-2

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3 March 2020

78-85

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3 March 2020

Genetic defects in the human glycome

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Neurology of inherited glycosylation disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Screening and diagnosis of congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

How to find and diagnose a CDG due to defective N-glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Next-generation sequencing entering the clinical arena

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Next-generation sequencing applied to molecular diagnostics

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Next generation sequencing--implications for clinical practice

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Expanding DNA diagnostic panel testing: is more better?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Exome sequencing: a transformative technology

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Identification of novel SNPs in glioblastoma using targeted resequencing

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Carrier testing for severe childhood recessive diseases by next-generation sequencing

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

MutaDATABASE: a centralized and standardized DNA variation database

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Next-generation sequencing and its applications in molecular diagnostics

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.05.012

7 January 2021

Identifiers

10.1016/J.YMGME.2013.05.012

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23806237%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23806237%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

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