• Login
    View Item 
    •   Royal Devon Research Repository Home
    • All RD&E publications by year
    • 2015 RD&E publications
    • View Item
    •   Royal Devon Research Repository Home
    • All RD&E publications by year
    • 2015 RD&E publications
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

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

    Thumbnail
    URI
    http://hdl.handle.net/11287/618160
    Author
    De Franco, Elisa
    Ellard, Sian
    Date
    2015-08
    Journal
    Pediatric Clinics of North America
    Type
    Journal Article
    Publisher
    Elsevier
    DOI
    10.1016/j.pcl.2015.04.012
    Rights
    Archived with thanks to Pediatric clinics of North America
    Metadata
    Show full item record
    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 URL
    http://linkinghub.elsevier.com/retrieve/pii/S0031-3955(15)00052-8
    Collections
    • 2015 RD&E publications
    • Honorary contracts publications
    • Molecular Genetics

    Browse

    All of Royal Devon Research RepositoryCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

    My Account

    LoginRegister

    DSpace software copyright © 2002-2023  DuraSpace
    Contact Us | Send Feedback
    DSpace Express is a service operated by 
    Atmire NV