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Resie Vervenne

19992023

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  • 34 Article
  • 1 Comment/Letter to the editor

  • Proteomic landscapes of inherited platelet disorders with different etiologies

    Kreft, I. C., Huisman, E. J., Cnossen, M. H., van Alphen, F. P. J., van der Zwaan, C., van Leeuwen, K., van Spaendonk, R., Porcelijn, L., Veen, C. S. B., van den Biggelaar, M., de Haas, M., Meijer, A. B. & Hoogendijk, A. J., 1 Feb 2023, In: Journal of Thrombosis and Haemostasis. 21, 2, p. 359-372.e3 14 p.

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

    Open Access

  • Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case

    Vanholder, I. M., Ecury-Goossen, G. M., Admiraal, J., Porcelijn, L., van Spaendonk, R. M. L. & Gouw, S. C., Dec 2022, In: Journal of Paediatrics and Child Health. 58, 12, p. 2319-2321 3 p.

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

  • Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

    Holstege, H., Hulsman, M., Charbonnier, C., Grenier-Boley, B., Quenez, O., Grozeva, D., van Rooij, J. G. J., Sims, R., Ahmad, S., Amin, N., Norsworthy, P. J., Dols-Icardo, O., Hummerich, H., Kawalia, A., Amouyel, P., Beecham, G. W., Berr, C., Bis, J. C., Boland, A., Bossù, P., & 87 othersBouwman, F., Bras, J., Campion, D., Cochran, J. N., Daniele, A., Dartigues, J-F., Debette, S., Deleuze, J-F., Denning, N., DeStefano, A. L., Farrer, L. A., Fernández, M. V., Fox, N. C., Galimberti, D., Genin, E., Gille, J. J. P., Le Guen, Y., Guerreiro, R., Haines, J. L., Holmes, C., Ikram, M. A., Ikram, M. K., Jansen, I. E., Kraaij, R., Lathrop, M., Lemstra, A. W., Lleó, A., Luckcuck, L., Mannens, M. M. A. M., Marshall, R., Martin, E. R., Masullo, C., Mayeux, R., Mecocci, P., Meggy, A., Mol, M. O., Morgan, K., Myers, R. M., Nacmias, B., Naj, A. C., Napolioni, V., Pasquier, F., Pastor, P., Pericak-Vance, M. A., Raybould, R., Redon, R., Reinders, M. J. T., Richard, A-C., Riedel-Heller, S. G., Rivadeneira, F., Rousseau, S., Ryan, N. S., Saad, S., Sanchez-Juan, P., Schellenberg, G. D., Scheltens, P., Schott, J. M., Seripa, D., Seshadri, S., Sie, D., Sistermans, E. A., Sorbi, S., van Spaendonk, R., Spalletta, G., Tesi, N., Tijms, B., Uitterlinden, A. G., van der Lee, S. J., Visser, P. J., Wagner, M., Wallon, D., Wang, L-S., Zarea, A., Clarimon, J., van Swieten, J. C., Greicius, M. D., Yokoyama, J. S., Cruchaga, C., Hardy, J., Ramirez, A., Mead, S., van der Flier, W. M., van Duijn, C. M., Williams, J., Nicolas, G., Bellenguez, C. & Lambert, J-C., 1 Dec 2022, In: Nature Genetics. 54, 12, p. 1786-1794 9 p.

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

    Open Access
    2 Citations (Scopus)

  • Carpenter syndrome in a patient from Tanzania

    Lodhia, J., Rego-Garcia, I., Koipapi, S., Sadiq, A., Msuya, D., Spaendonk, R. V. V., Hamel, B. & Dekker, M., Mar 2021, In: American Journal of Medical Genetics, Part A. 185, 3, p. 986-989 4 p.

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

    1 Citation (Scopus)

  • 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 othersSébire, 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
    15 Citations (Scopus)
View all 35 research outputs