Functional Genomics

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  • A FOXO-dependent replication checkpoint restricts proliferation of damaged cells

    Hornsveld, M., Feringa, F. M., Krenning, L., van den Berg, J., Smits, L. M. M., Nguyen, N. B. T., Rodríguez-Colman, M. J., Dansen, T. B., Medema, R. H. & Burgering, B. M. T., 26 Jan 2021, In : Cell Reports. 34, 4, p. 1-15 15 p., 108675.

    Research output: Contribution to Journal › Article › Academic › peer-review

    Open Access

  • Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

    van Geest, F. S., Meima, M. E., Stuurman, K. E., Wolf, N. I., van der Knaap, M. S., Lorea, C. F., Poswar, F. O., Vairo, F., Brunetti-Pierri, N., Cappuccio, G., Bakhtiani, P., de Munnik, S. A., Peeters, R. P., Visser, W. E. & Groeneweg, S., 23 Jan 2021, In : The Journal of clinical endocrinology and metabolism. 106, 2, p. 539-553 15 p.

    Research output: Contribution to Journal › Article › Academic › peer-review

    Open Access

  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M. & 99 others, Sébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., 23 Jan 2021, In : The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

    Research output: Contribution to Journal › Article › Academic › peer-review

    Open Access

  • Hypomyelinating leukodystrophies — unravelling myelin biology

    Wolf, N. I., ffrench-Constant, C. & van der Knaap, M. S., Feb 2021, In : Nature Reviews Neurology. 17, 2, p. 88-103 16 p.

    Research output: Contribution to Journal › Review article › Academic › peer-review

  • In vivo tau pathology is associated with synaptic loss and altered synaptic function

    Coomans, E. M., Schoonhoven, D. N., Tuncel, H., Verfaillie, S. C. J., Wolters, E. E., Boellaard, R., Ossenkoppele, R., den Braber, A., Scheper, W., Schober, P., Sweeney, S. P., Ryan, J. M., Schuit, R. C., Windhorst, A. D., Barkhof, F., Scheltens, P., Golla, S. S. V., Hillebrand, A., Gouw, A. A. & van Berckel, B. N. M., Dec 2021, In : Alzheimer's Research and Therapy. 13, 1, 35.

    Research output: Contribution to Journal › Article › Academic › peer-review

    Open Access
  • 2 Lecture / Presentation