Works by Witkowski, Tom


Results: 9
    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
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    Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
    By:
    • Ye, Zimeng;
    • Lin, Sufang;
    • Zhao, Xia;
    • Bennett, Mark F.;
    • Brown, Natasha J.;
    • Wallis, Mathew;
    • Gao, Xinyi;
    • Sun, Li;
    • Wu, Jiarui;
    • Vedururu, Ravikiran;
    • Witkowski, Tom;
    • Gardiner, Fiona;
    • Stutterd, Chloe;
    • Duan, Jing;
    • Mullen, Saul A.;
    • McGillivray, George;
    • Bodek, Simon;
    • Valente, Giulia;
    • Reagan, Matthew;
    • Yao, Yi
    Publication type:
    Article
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    Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

    Published in:
    JAMA Neurology, 2023, v. 80, n. 6, p. 578, doi. 10.1001/jamaneurol.2023.0473
    By:
    • Khoshkhoo, Sattar;
    • Wang, Yilan;
    • Chahine, Yasmine;
    • Erson-Omay, E. Zeynep;
    • Robert, Stephanie M.;
    • Kiziltug, Emre;
    • Damisah, Eyiyemisi C.;
    • Nelson-Williams, Carol;
    • Zhu, Guangya;
    • Kong, Wenna;
    • Huang, August Yue;
    • Stronge, Edward;
    • Phillips, H. Westley;
    • Chhouk, Brian H.;
    • Bizzotto, Sara;
    • Chen, Ming Hui;
    • Adikari, Thiuni N.;
    • Ye, Zimeng;
    • Witkowski, Tom;
    • Lai, Dulcie
    Publication type:
    Article