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Literature DB >> 24549053

The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.

Anna Dierking¹, Jörg Schmidtke¹.

Abstract

Mesh：

Year: 2014 PMID： 24549053 PMCID： PMC4200435 DOI： 10.1038/ejhg.2014.23

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

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4 in total

1. The EuroGentest clinical utility gene cards.

Authors: Jörg Schmidtke; Jean-Jacques Cassiman
Journal: Eur J Hum Genet Date: 2010-09 Impact factor: 4.246

Review 2. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

Authors: Marjan M Weiss; Bert Van der Zwaag; Jan D H Jongbloed; Maartje J Vogel; Hennie T Brüggenwirth; Ronald H Lekanne Deprez; Olaf Mook; Claudia A L Ruivenkamp; Marjon A van Slegtenhorst; Arthur van den Wijngaard; Quinten Waisfisz; Marcel R Nelen; Nienke van der Stoep
Journal: Hum Mutat Date: 2013-08-19 Impact factor: 4.878

3. The EuroGentest Clinical Utility Gene Cards continued.

Authors: Anna Dierking; Jörg Schmidtke; Gert Matthijs; Jean-Jacques Cassiman
Journal: Eur J Hum Genet Date: 2013-01 Impact factor: 4.246

Review 4. Disease-targeted sequencing: a cornerstone in the clinic.

Authors: Heidi L Rehm
Journal: Nat Rev Genet Date: 2013-03-12 Impact factor: 53.242

4 in total

6 in total

1. The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

Authors: Victoria Q Tao; Kelvin Y K Chan; Yoyo W Y Chu; Gary T K Mok; Tiong Y Tan; Wanling Yang; So Lun Lee; Wing Fai Tang; Winnie W Y Tso; Elizabeth T Lau; Anita S Y Kan; Mary H Tang; Yu-Lung Lau; Brian H Y Chung
Journal: PLoS One Date: 2014-10-15 Impact factor: 3.240

The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.

1. The EuroGentest clinical utility gene cards.

Review 2. Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

3. The EuroGentest Clinical Utility Gene Cards continued.

Review 4. Disease-targeted sequencing: a cornerstone in the clinic.

1. The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

2. KBG syndrome involving a single-nucleotide duplication in ANKRD11.

3. SCN8A mutation in a child presenting with seizures and developmental delays.

4. Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

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

6. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.