Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing-Reference-Cited by-同舟云学术

Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Published:2019-10-16 Issue:4 Volume:87 Page:735-739
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Ziats Mark N.,Ahmad Ayesha,Bernat John A.,Fisher Rachel,Glassford Megan,Hannibal Mark C.,Jacher Joseph E.,Weiser Natasha,Keegan Catherine E.,Lee Kristen N.,Marzulla Tessa B.,O’Connor Bridget C.,Quinonez Shane C.,Seemann Lauren,Turner Lauren,Bielas Stephanie,Harris Nicholas L.,Ogle Jacob D.,Innis Jeffrey W.,Martin Donna M.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://www.nature.com/articles/s41390-019-0611-5.pdf

Reference20 articles.

1. Gahl, W. A. et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet. Med. 14, 51–59 (2012).

2. Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312, 1880–1887 (2014).

3. Need, A. C. et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49, 353–361 (2012).

4. Yang, Y. et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870–1879 (2014).

5. Valencia, C. A. et al. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience. Front. Pediatr. 3, 67 (2015).

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