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    The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

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    URI
    http://hdl.handle.net/11287/618113
    Author
    De Franco, E.
    Flanagan, Sarah
    Houghton, J. A. L.
    Lango Allen, H.
    Mackay, D. J. G.
    Temple, I. K.
    Ellard, Sian
    Hattersley, Andrew T.
    Date
    2015-09-05
    Journal
    Lancet
    Type
    Journal Article
    Multicenter Study
    Research Support, Non-U.S. Gov't
    Publisher
    Elsevier
    DOI
    10.1016/S0140-6736(15)60098-8
    Rights
    Archived with thanks to Lancet (London, England)
    Metadata
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    Abstract
    Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.
    Citation
    The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. 2015, 386 (9997):957-63 Lancet
    Publisher URL
    http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(15)60098-8
    Note
    This article is available via Open Access. Click on the 'Additional Link' above to access the full text from the publisher's site.
    Collections
    • 2015 RD&E publications
    • Diabetes and endocrinology
    • Molecular Genetics

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