References
- Djémié T Weckhuysen S von Spiczak S Carvill GL Jaehn J Anttonen AK EuroEPINOMICS-RES Dravet working group Pitfalls in genetic testing: the story of missed SCN1A mutations Mol Genet Genomic Med 2016 Apr 4 4 457 64 10.1002/mgg3.217 27465585
- Jennings LJ Yu M Zhou L Rand CM Berry-Kravis EM Weese-Mayer DE Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers Diagn Mol Pathol 2010 Dec 19 4 224 31 10.1097/PDM.0b013e3181eb92ff 21051998
- Schrijver I Aziz N Farkas DH Furtado M Gonzalez AF Greiner TC Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology J Mol Diagn 2012 Nov 14 6 525 40 10.1016/j.jmoldx.2012.04.006 22918138
DOI: https://doi.org/10.15844/pedneurbriefs-30-9-1 | Journal eISSN: 2166-6482
Language: English
Page range: 36 - 36
Submitted on: Sep 2, 2016
Accepted on: Sep 10, 2016
Published on: Sep 13, 2016
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2016 Lawrence J. Jennings, Dawn Kirschmann, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.