Works by Gooley, Samuel

Results: 3
    1

    Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 15, p. 1286, doi. 10.1093/hmg/ddaf077
    By:
    • Sikta, Neblina;
    • Gooley, Samuel;
    • Green, Timothy E;
    • Hoeper, Olivia;
    • Witkowski, Tom;
    • Bennett, Caitlin;
    • Francis, David;
    • Reid, Joshua;
    • Mao, Kevin;
    • Awad, Mohammed;
    • Roberts-Thomson, Samuel;
    • Bulluss, Kristian;
    • Clark, Jonathan;
    • Scheffer, Ingrid E;
    • Perucca, Piero;
    • Bennett, Mark F;
    • Bahlo, Melanie;
    • Berkovic, Samuel F;
    • Hildebrand, Michael S
    Publication type:
    Article
    2
    3

    Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3582, doi. 10.3390/ijms24043582
    By:
    • Van Bergen, Nicole J.;
    • Gunanayagam, Karen;
    • Bournazos, Adam M.;
    • Walvekar, Adhish S.;
    • Warmoes, Marc O.;
    • Semcesen, Liana N.;
    • Lunke, Sebastian;
    • Bommireddipalli, Shobhana;
    • Sikora, Tim;
    • Patraskaki, Myrto;
    • Jones, Dean L.;
    • Garza, Denisse;
    • Sebire, Dale;
    • Gooley, Samuel;
    • McLean, Catriona A.;
    • Naidoo, Parm;
    • Rajasekaran, Mugil;
    • Stroud, David A.;
    • Linster, Carole L.;
    • Wallis, Mathew
    Publication type:
    Article