Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A. Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A., Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J., Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N., Monaghan, Kristin G., Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C., Rosenblum, Jessica, Haack, Tobias B., Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B., Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C., Frydman, Judith, Elbracht, Miriam and Kurth, Ingo 2024. Brain malformations and seizures by impaired chaperonin function of TRiC. Science 386 (6721) , pp. 516-525. 10.1126/science.adp8721 |
McClatchey, Martin A., du Toit, Zachary D., Vaughan, Rhys, Whatley, Sharon D., Martins, Sara, Hegde, Shivaram, Naude, Johann te Water, Thomas, David H., Griffiths, David F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63 (9) , 103972. 10.1016/j.ejmg.2020.103972 |