Works by Ellard, Sian

Results: 331
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    HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765
    By:
    • Reichert, Sara C.;
    • Li, Rachel;
    • Turner, Scott;
    • Jaarsveld, Richard H.;
    • Massink, Maarten P.G.;
    • Boogaard, Marie‐José H.;
    • Toro, Mireia;
    • Rodríguez‐Palmero, Agustí;
    • Fourcade, Stéphane;
    • Schlüter, Agatha;
    • Planas‐Serra, Laura;
    • Pujol, Aurora;
    • Iascone, Maria;
    • Maitz, Silvia;
    • Loong, Lucy;
    • Stewart, Helen;
    • De Franco, Elisa;
    • Ellard, Sian;
    • Frank, Julie;
    • Lewandowski, Raymond
    Publication type:
    Article
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    Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

    Published in:
    PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228417
    By:
    • Yau, Daphne;
    • Laver, Thomas W.;
    • Dastamani, Antonia;
    • Senniappan, Senthil;
    • Houghton, Jayne A. L.;
    • Shaikh, Guftar;
    • Cheetham, Tim;
    • Mushtaq, Talat;
    • Kapoor, Ritika R.;
    • Randell, Tabitha;
    • Ellard, Sian;
    • Shah, Pratik;
    • Banerjee, Indraneel;
    • Flanagan, Sarah E.
    Publication type:
    Article
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    GATA6 haploinsufficiency causes pancreatic agenesis in humans.

    Published in:
    Nature Genetics, 2012, v. 44, n. 1, p. 20, doi. 10.1038/ng.1035
    By:
    • Allen, Hana Lango;
    • Flanagan, Sarah E;
    • Shaw-Smith, Charles;
    • De Franco, Elisa;
    • Akerman, Ildem;
    • Caswell, Richard;
    • Ferrer, Jorge;
    • Hattersley, Andrew T;
    • Ellard, Sian
    Publication type:
    Article
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    Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

    Published in:
    Nature Genetics, 2008, v. 40, n. 8, p. 949, doi. 10.1038/ng.187
    By:
    • Mackay, Deborah J. G.;
    • Callaway, Jonathan L. A.;
    • Marks, Sophie M.;
    • White, Helen E.;
    • Acerini, Carlo L.;
    • Boonen, Susanne E.;
    • Dayanikli, Pinar;
    • Firth, Helen V.;
    • Goodship, Judith A.;
    • Haemers, Andreas P.;
    • Hahnemann, Johanne M. D.;
    • Kordonouri, Olga;
    • Masoud, Ahmed F.;
    • Oestergaard, Elsebet;
    • Storr, John;
    • Ellard, Sian;
    • Hattersley, Andrew T.;
    • Robinson, David O.;
    • Temple, I. Karen
    Publication type:
    Article
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    Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.

    Published in:
    2021
    By:
    • Bowman, Pamela;
    • Mathews, Frances;
    • Barbetti, Fabrizio;
    • Shepherd, Maggie H.;
    • Sanchez, Janine;
    • Piccini, Barbara;
    • Beltrand, Jacques;
    • Letourneau-Freiberg, Lisa R.;
    • Polak, Michel;
    • Greeley, Siri Atma W.;
    • Rawlins, Eamon;
    • Babiker, Tarig;
    • Thomas, Nicholas J.;
    • De Franco, Elisa;
    • Ellard, Sian;
    • Flanagan, Sarah E.;
    • Hattersley, Andrew T.;
    • Mohsin, Fauzia;
    • Cummings, Elizabeth;
    • LeGault, Laurent
    Publication type:
    journal article
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    Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.

    Published in:
    Diabetes Care, 2020, v. 43, n. 1, p. 82, doi. 10.2337/dc19-0747
    By:
    • Carlsson, Annelie;
    • Shepherd, Maggie;
    • Ellard, Sian;
    • Weedon, Michael;
    • Lernmark, Åke;
    • Forsander, Gun;
    • Colclough, Kevin;
    • Brahimi, Qefsere;
    • Valtonen-Andre, Camilla;
    • Ivarsson, Sten A.;
    • Larsson, Helena Elding;
    • Samuelsson, Ulf;
    • Örtqvist, Eva;
    • Groop, Leif;
    • Ludvigsson, Johnny;
    • Marcus, Claude;
    • Hattersley, Andrew T.
    Publication type:
    Article
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    Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

    Published in:
    2016
    By:
    • Shepherd, Maggie;
    • Shields, Beverley;
    • Hammersley, Suzanne;
    • Hudson, Michelle;
    • McDonald, Timothy J.;
    • Colclough, Kevin;
    • Oram, Richard A.;
    • Knight, Bridget;
    • Hyde, Christopher;
    • Cox, Julian;
    • Mallam, Katherine;
    • Moudiotis, Christopher;
    • Smith, Rebecca;
    • Fraser, Barbara;
    • Robertson, Simon;
    • Greene, Stephen;
    • Ellard, Sian;
    • Pearson, Ewan R.;
    • Hattersley, Andrew T.;
    • UNITED Team
    Publication type:
    journal article
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    tRNA Methyltransferase Homolog Gene <i>TRMT10A</i> Mutation in Young Onset Diabetes and Primary Microcephaly in Humans.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003888
    By:
    • Igoillo-Esteve, Mariana;
    • Genin, Anne;
    • Lambert, Nelle;
    • Désir, Julie;
    • Pirson, Isabelle;
    • Abdulkarim, Baroj;
    • Simonis, Nicolas;
    • Drielsma, Anais;
    • Marselli, Lorella;
    • Marchetti, Piero;
    • Vanderhaeghen, Pierre;
    • Eizirik, Décio L.;
    • Wuyts, Wim;
    • Julier, Cécile;
    • Chakera, Ali J.;
    • Ellard, Sian;
    • Hattersley, Andrew T.;
    • Abramowicz, Marc;
    • Cnop, Miriam
    Publication type:
    Article
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