Works by Bennett, Caitlin


Results: 8
    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

    Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
    By:
    • Green, Timothy E;
    • Motelow, Joshua E;
    • Bennett, Mark F;
    • Ye, Zimeng;
    • Bennett, Caitlin A;
    • Griffin, Nicole G;
    • Damiano, John A;
    • Leventer, Richard J;
    • Freeman, Jeremy L;
    • Harvey, A Simon;
    • Lockhart, Paul J;
    • Sadleir, Lynette G;
    • Boys, Amber;
    • Scheffer, Ingrid E;
    • Major, Heather;
    • Darbro, Benjamin W;
    • Bahlo, Melanie;
    • Goldstein, David B;
    • Kerrigan, John F;
    • Heinzen, Erin L
    Publication type:
    Article
    4
    5
    6
    7

    Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

    Published in:
    Developmental Medicine & Child Neurology, 2023, v. 65, n. 1, p. 50, doi. 10.1111/dmcn.15308
    By:
    • Scheffer, Ingrid E.;
    • Bennett, Caitlin A.;
    • Gill, Deepak;
    • de Silva, Michelle G.;
    • Boggs, Kirsten;
    • Marum, Justine;
    • Baker, Naomi;
    • Palmer, Elizabeth E.;
    • Howell, Katherine B.;
    • Andrews, Ian;
    • Antony, Jayne;
    • Ardern‐Holmes, Simone;
    • Bye, Ann M;
    • Cardamone, Michael;
    • Chelakkadan, Shabeed;
    • Clark, Damian;
    • Curnow, Sarah R;
    • Dabscheck, Gabriel;
    • Fahey, Michael C;
    • Freeman, Jeremy L
    Publication type:
    Article
    8

    Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

    Published in:
    2022
    By:
    • Gozzelino, Luca;
    • Kochlamazashvili, Gaga;
    • Baldassari, Sara;
    • Mackintosh, Albert Ian;
    • Licchetta, Laura;
    • Iovino, Emanuela;
    • Liu, Yu Chi;
    • Bennett, Caitlin A;
    • Bennett, Mark F;
    • Damiano, John A;
    • Zsurka, Gábor;
    • Marconi, Caterina;
    • Giangregorio, Tania;
    • Magini, Pamela;
    • Kuijpers, Marijn;
    • Maritzen, Tanja;
    • Norata, Giuseppe Danilo;
    • Baulac, Stéphanie;
    • Canafoglia, Laura;
    • Seri, Marco
    Publication type:
    journal article