Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Top Cited Papers
- 1 March 2011
- journal article
- case report
- Published by Elsevier in Genetics in Medicine
- Vol. 13 (3), 255-262
- https://doi.org/10.1097/gim.0b013e3182088158
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Nucleotide-Binding Oligomerization Domain-2 Inhibits Toll-Like Receptor-4 Signaling in the Intestinal EpitheliumGastroenterology, 2010
- Clinical assessment incorporating a personal genomeThe Lancet, 2010
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome SequencingScience, 2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyNew England Journal of Medicine, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencingProceedings of the National Academy of Sciences, 2009
- XIAP mediates NOD signaling via interaction with RIP2Proceedings of the National Academy of Sciences, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- The molecular basis of NOD2 susceptibility mutations in Crohn's diseaseMucosal Immunology, 2008
- XIAP Regulates Cytosol-Specific Innate Immunity to Listeria InfectionPLoS Pathogens, 2008