dr. P. Rump

Research

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

    Deciphering Developmental Disorder Study, 2019, In : Genetics in Medicine.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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

  3. 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

  4. 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

  5. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

    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., Apr-2019, In : Brain. 142, 4, p. 867-884 18 p.

    Research output: Contribution to journalArticleAcademicpeer-review

View all (51) »

View graph of relations

ID: 501292