Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care (Q37316405)

19 August 2017

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care (English)

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biomedical investigative technique

19 August 2017

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P Frosk

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Jodi Warman Chardon

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William T. Gibson

W Gibson

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Geneviève Bernard

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B Brais

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Jeremy Schwartzentruber

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Guy A. Rouleau

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FORGE Canada Consortium

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Care4Rare Canada Consortium

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Care4Rare Canada Consortium

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Creative Commons Attribution-NonCommercial-NoDerivatives

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publication type of scholarly work

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on focus list of Wikimedia project

ScienceSource

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cites work

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

6 September 2017

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6 September 2017

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Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

6 September 2017

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

6 September 2017

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Exome sequencing can improve diagnosis and alter patient management

6 September 2017

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Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

6 September 2017

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Clinical application of exome sequencing in undiagnosed genetic conditions

6 September 2017

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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

6 September 2017

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

6 September 2017

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Mendelian Inheritance in Man and its online version, OMIM

6 September 2017

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Why do we need a diagnosis? A qualitative study of parents' experiences, coping and needs, when the newborn child is severely disabled

6 September 2017

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Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing

14 September 2017

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

2 September 2018

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Exome sequencing as a diagnostic tool for pediatric-onset ataxia

2 September 2018

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

2 September 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

2 September 2018

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2 September 2018

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Exome diagnostics: already a reality?

2 September 2018

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A de novo paradigm for mental retardation

2 September 2018

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Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

2 September 2018

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A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

21 January 2018

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Points to consider in the clinical application of genomic sequencing

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26283276

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/CGE.12654

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

26283276

1 reference