dr. P. Rump

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E-mail:
p.rump umcg.nl

Research

Publications
  1. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

    Dingemans, A. J. M., Stremmelaar, D. E., Van der Donk, R., Vissers, L. E. L. M., Koolen, D. A., Rump, P., Hehir-Kwa, J. Y. & De Vries, B. B. A., Dec-2020, In : European Journal of Human Genetics. 28, SUPPL 1, p. 597-597 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  2. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16-Nov-2020, In : Nature Communications. 11, 1, 14 p., 5797.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

    Muir, A. M., Cohen, J. L., Sheppard, S. E., Guttipatti, P., Lo, T. Y., Weed, N., Doherty, D., DeMarzo, D., Fagerberg, C. R., Kjærsgaard, L., Larsen, M. J., Rump, P., Löhner, K., Hirsch, Y., Zeevi, D. A., Zackai, E. H., Bhoj, E., Song, Y. & Mefford, H. C., 7-May-2020, In : American Journal of Human Genetics. 106, 5, p. 623-631 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

    Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. M., Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. T., Thevenon, J., Faivre, L., Thomas, G. & Thauvin-Robinet, C., Jul-2019, In : European Journal of Human Genetics. 27, p. 853-854 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

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