(Q45225641)

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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

scientific article published on 29 August 2013

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scholarly article

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Europe PubMed Central

11 December 2017

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders (English)

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Europe PubMed Central

11 December 2017

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medical genetics

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author name string

Vandana Shashi

1

1 reference

Europe PubMed Central

11 December 2017

Allyn McConkie-Rosell

2

1 reference

Europe PubMed Central

11 December 2017

Bruce Rosell

3

1 reference

Europe PubMed Central

11 December 2017

Kelly Schoch

4

1 reference

Europe PubMed Central

11 December 2017

Kasturi Vellore

5

1 reference

Europe PubMed Central

11 December 2017

Marie McDonald

6

1 reference

Europe PubMed Central

11 December 2017

Yong-Hui Jiang

7

1 reference

Europe PubMed Central

11 December 2017

Pingxing Xie

8

1 reference

Europe PubMed Central

11 December 2017

Anna Need

9

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Europe PubMed Central

11 December 2017

David B Goldstein

10

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Europe PubMed Central

11 December 2017

language of work or name

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publication date

29 August 2013

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Europe PubMed Central

11 December 2017

Genetics in Medicine

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Europe PubMed Central

11 December 2017

16

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11 December 2017

2

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Europe PubMed Central

11 December 2017

176-182

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Europe PubMed Central

11 December 2017

https://scigraph.springernature.com/pub.10.1038/gim.2013.99

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The effect of Mendelian disease on human health: a measurement.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Diagnostic yield of the neurologic assessment of the developmentally delayed child

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Outcome of the routine assessment of patients with mental retardation in a genetics clinic

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

The yield of the medical evaluation of children with pervasive developmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Clinical genetic testing for patients with autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Yield of additional metabolic studies in neurodevelopmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Next-generation sequencing in the clinic: are we ready?

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Next-generation sequencing demands next-generation phenotyping

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

21 January 2018

Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.99

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/GIM.2013.99

1 reference

Europe PubMed Central

11 December 2017

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1 reference

Europe PubMed Central

11 December 2017

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