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Literature DB >> 26508569

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.

Gert Matthijs¹, Anna Dierking², Jörg Schmidtke².

Abstract

Mesh：

Substances：
Biomarkers
Proteins

Year: 2015 PMID： 26508569 PMCID： PMC4795236 DOI： 10.1038/ejhg.2015.229

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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2 in total

1. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

Authors: Mine Arslan-Kirchner; Eloisa Arbustini; Catherine Boileau; Philippe Charron; Anne H Child; Gwenaelle Collod-Beroud; Julie De Backer; Anne De Paepe; Anna Dierking; Laurence Faivre; Sabine Hoffjan; Guillaume Jondeau; Britta Keyser; Bart Loeys; Karin Mayer; Peter N Robinson; Jörg Schmidtke
Journal: Eur J Hum Genet Date: 2015-10-28 Impact factor: 4.246

2. Guidelines for diagnostic next-generation sequencing.

Authors: Gert Matthijs; Erika Souche; Mariëlle Alders; Anniek Corveleyn; Sebastian Eck; Ilse Feenstra; Valérie Race; Erik Sistermans; Marc Sturm; Marjan Weiss; Helger Yntema; Egbert Bakker; Hans Scheffer; Peter Bauer
Journal: Eur J Hum Genet Date: 2015-10-28 Impact factor: 4.246

2 in total

3 in total

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.

1. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

2. Guidelines for diagnostic next-generation sequencing.

1. How is genetic testing evaluated? A systematic review of the literature.

2. Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.

Review 3. Clinical Interpretation of Genomic Variations.