Found: 5

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  • 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38044-0
    By:
    • Okonechnikov, Konstantin;
    • Camgöz, Aylin;
    • Chapman, Owen;
    • Wani, Sameena;
    • Park, Donglim Esther;
    • Hübner, Jens-Martin;
    • Chakraborty, Abhijit;
    • Pagadala, Meghana;
    • Bump, Rosalind;
    • Chandran, Sahaana;
    • Kraft, Katerina;
    • Acuna-Hidalgo, Rocio;
    • Reid, Derek;
    • Sikkink, Kristin;
    • Mauermann, Monika;
    • Juarez, Edwin F.;
    • Jenseit, Anne;
    • Robinson, James T.;
    • Pajtler, Kristian W.;
    • Milde, Till
    Publication type:
    Article

  • Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 12, p. 1632, doi. 10.1016/j.jalz.2018.06.3056
    By:
    • Nicolas, Gaël;
    • Acuña‐Hidalgo, Rocío;
    • Keogh, Michael J.;
    • Quenez, Olivier;
    • Steehouwer, Marloes;
    • Lelieveld, Stefan;
    • Rousseau, Stéphane;
    • Richard, Anne‐Claire;
    • Oud, Manon S.;
    • Marguet, Florent;
    • Laquerrière, Annie;
    • Morris, Chris M.;
    • Attems, Johannes;
    • Smith, Colin;
    • Ansorge, Olaf;
    • Al Sarraj, Safa;
    • Frebourg, Thierry;
    • Campion, Dominique;
    • Hannequin, Didier;
    • Wallon, David
    Publication type:
    Article

  • New insights into the generation and role of de novo mutations in health and disease.

    Published in:
    Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1110-1
    By:
    • Acuna-Hidalgo, Rocio;
    • Veltman, Joris A.;
    • Hoischen, Alexander
    Publication type:
    Article

  • The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3022, doi. 10.1002/ajmg.a.38485
    By:
    • Shen, Wei;
    • Heeley, Jennifer M.;
    • Carlston, Colleen M.;
    • Acuna‐Hidalgo, Rocio;
    • Nillesen, Willy M.;
    • Dent, Karin M.;
    • Douglas, Ganka V.;
    • Levine, Kara L.;
    • Bayrak‐Toydemir, Pinar;
    • Marcelis, Carlo L.;
    • Shinawi, Marwan;
    • Carey, John C.
    Publication type:
    Article

  • Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
    By:
    • Acuna-Hidalgo, Rocio;
    • Deriziotis, Pelagia;
    • Steehouwer, Marloes;
    • Gilissen, Christian;
    • Graham, Sarah A.;
    • van Dam, Sipko;
    • Hoover-Fong, Julie;
    • Telegrafi, Aida B.;
    • Destree, Anne;
    • Smigiel, Robert;
    • Lambie, Lindsday A.;
    • Kayserili, Hülya;
    • Altunoglu, Umut;
    • Lapi, Elisabetta;
    • Uzielli, Maria Luisa;
    • Aracena, Mariana;
    • Nur, Banu G.;
    • Mihci, Ercan;
    • Moreira, Lilia M. A.;
    • Borges Ferreira, Viviane
    Publication type:
    Article