Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618160
Title:
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
Authors:
De Franco, Elisa; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results guiding their clinical management. Exome and genome sequencing are powerful tools to identify novel genetic causes of known diseases. For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.
Citation:
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 2015, 62 (4):1037-53 Pediatr. Clin. North Am.
Publisher:
Elsevier
Journal:
Pediatric Clinics of North America
Issue Date:
Aug-2015
URI:
http://hdl.handle.net/11287/618160
DOI:
10.1016/j.pcl.2015.04.012
PubMed ID:
26210631
Additional Links:
http://linkinghub.elsevier.com/retrieve/pii/S0031-3955(15)00052-8
Type:
Journal Article
Language:
en
ISSN:
1557-8240
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorDe Franco, Elisaen
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-08-10T09:57:16Z-
dc.date.available2016-08-10T09:57:16Z-
dc.date.issued2015-08-
dc.identifier.citationGenome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 2015, 62 (4):1037-53 Pediatr. Clin. North Am.en
dc.identifier.issn1557-8240-
dc.identifier.pmid26210631-
dc.identifier.doi10.1016/j.pcl.2015.04.012-
dc.identifier.urihttp://hdl.handle.net/11287/618160-
dc.description.abstractThe use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results guiding their clinical management. Exome and genome sequencing are powerful tools to identify novel genetic causes of known diseases. For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0031-3955(15)00052-8en
dc.rightsArchived with thanks to Pediatric clinics of North Americaen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleGenome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.en
dc.typeJournal Articleen
dc.identifier.journalPediatric Clinics of North Americaen
dc.type.versionPublisheden

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