dr. P. Rump

E-mail:
p.rump umcg.nl

Research

Publications
  1. 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

  2. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

    Deciphering Developmental Disorder Study, Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Guillen Sacoto, M. J., Schnur, R. E., Zhu, Z., Poisson, A., El Chehadeh, S., Alembik, Y., Bruel, A-L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E. J., Masser-Frye, D., Bird, L. M., Lindstrom, K., Ramsey, K. M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C. G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P. & Gerkes, E. H., 2019, In : Genetics in Medicine. 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Corrigendum: Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics (vol 142, pg 867, 2019)

    Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., van der Sterre, M. L. T., van Unen, L. M. A., Wilke, M., Elfferich, P., van der Spek, P. J., Heijsman, D., Grandone, A., Demmers, J. A. A., Dekkers, D. H. W., Slotman, J. A., Kremers, G-J., Schaaf, G. J., Masius, R. G., van Essen, A. J., Rump, P., van Haeringen, A., Peeters, E., Altunoglu, U., Kalayci, T., Poot, R. A., Dobyns, W. B., Bahi-Buisson, N., Verheijen, F. W., Jansen, A. C. & Mancini, G. M. S., Jun-2019, In : Brain. 142, 1 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Balak, C., Benard, M., Schaefer, E., Iqbal, S., Ramsey, K., Ernoult-Lange, M., Mattioli, F., Llaci, L., Geoffroy, V., Courel, M., Naymik, M., Bachman, K. K., Pfundt, R., Rump, P., ter Beest, J., Wentzensen, I. M., Monaghan, K. G., McWalter, K., Richholt, R., Le Bechec, A., Jepsen, W., De Both, M., Belnap, N., Boland, A., Piras, I. S., Deleuze, J-F., Szelinger, S., Dollfus, H., Chelly, J., Muller, J., Campbell, A., Lal, D., Rangasamy, S., Mandel, J-L., Narayanan, V., Huentelman, M., Weil, D. & Piton, A., 5-Sep-2019, In : American Journal of Human Genetics. 105, 3, p. 509-525 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

    Tiosano, D., Baris, H. N., Chen, A., Hitzert, M. M., Schueler, M., Gulluni, F., Wiesener, A., Bergua, A., Mory, A., Copeland, B., Gleeson, J. G., Rump, P., van Meer, H., Sival, D. A., Haucke, V., Kriwinsky, J., Knaup, K. X., Reis, A., Hauer, N. N., Hirsch, E., Roepman, R., Pfundt, R., Thiel, C. T., Wiesener, M. S., Aslanyan, M. G. & Buchner, D. A., Apr-2019, In : PLoS genetics. 15, 4, 21 p., 1008088.

    Research output: Contribution to journalArticleAcademicpeer-review

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