P1.06-001 Sluga R, Roepman P, Kummer A, vd Bosch W, vd Borne BEEM, Schramel FMNH von Sluga, Romina, Schramel, Franz

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P1.06-001 Sluga R, Roepman P, Kummer A, vd Bosch W, vd Borne BEEM, Schramel FMNH: Topic: Advanced General von Sluga, Romina, Schramel, Franz

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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse von Ung, D C, Iacono, G, Méziane, H, Blanchard, E, Papon, M-A, Selten, M, van Rhijn, J-R, Montjean, R, Rucci, J, Martin, S, Fleet, A, Birling, M-C, Marouillat, S, Roepman, R, Selloum, M, Lux, A, Thépault, R-A, Hamel, P, Mittal, K, Vincent, J B, Dorseuil, O, Stunnenberg, H G, Billuart, P, Nadif Kasri, N, Hérault, Y, Laumonnier, F

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ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function von Ba, W., Selten, M.M., van der Raadt, J., van Veen, H., Li, L.-L., Benevento, M., Oudakker, A.R., Lasabuda, R.S.E., Letteboer, S.J., Roepman, R., van Wezel, R.J.A., Courtney, M.J., van Bokhoven, H., Nadif Kasri, N.

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Identification of C12orf4 as a gene for autosomal recessive intellectual disability von Philips, A.K., Pinelli, M., de Bie, C.I., Mustonen, A., Määttä, T., Arts, H.H., Wu, K., Roepman, R., Moilanen, J.S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K.L.I., Järvelä, I.

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Genetics of Leber congenital amaurosis von DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

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A reference to assess cilium phenotype in ciliopathy patients von Oud, M, Arts, H, Roepman, R

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors von ROEPMAN, R, BERNOUD-HUBAC, N, SCHICK, D. E, MAUGERI, A, BERGER, W, ROPERS, H.-H, CREMERS, F. P. M, FERREIRA, P. A

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Combined use of MammaPrint and molecular subtyping profile (BluePrint) to identify subgroups with marked differences in response to neoadjuvant treatment von De Snoo, F., Roepman, P., Krijgsman, O., Bender, R. A., Bernards, R., Glas, A.

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LBA27Drug Rediscovery Protocol: Expanded use of existing anticancer drugs von Voest, E E, van der Velden, D L, Hoes, L, Van Der Wijngaart, H, Van Berge Henegouwen, M, Van Werkhoven, E, Roepman, P, Huitema, A D R, van Herpen, C, de Groot, D J, Devriese, L, de Jonge, M J A, Chalabi, M, Smit, E F, Mehra, N, Labots, M, Sleijfer, S, Cuppen, E, Verheul, H M W, Gelderblom, H

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2 von Reiners, Jan, van Wijk, Erwin, Märker, Tina, Zimmermann, Ulrike, Jürgens, Karin, te Brinke, Heleen, Overlack, Nora, Roepman, Ronald, Knipper, Marlies, Kremer, Hannie, Wolfrum, Uwe

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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations von Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Krieger, Elmar, Ferreira, Paulo A., Frans P. M. Cremers, Nathans, Jeremy

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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1 von van Wijk, Erwin, van der Zwaag, Bert, Peters, Theo, Zimmermann, Ulrike, te Brinke, Heleen, Kersten, Ferry F.J., Märker, Tina, Aller, Elena, Hoefsloot, Lies H., Cremers, Cor W.R.J., Cremers, Frans P.M., Wolfrum, Uwe, Knipper, Marlies, Roepman, Ronald, Kremer, Hannie

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From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape von Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB

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A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes von Szymanska, K, Wheway, G, Doherty, D, Schmidts, M, Mans, D, Nguyen, TMT, Boldt, K, Tödt, G, Abdelhamed, Z, Wunderlich, K, Natarajan, S, Parry, DA, Logan, CV, Herridge, W, Sorusch, N, Wolfrum, U, Ueffing, M, Roepman, R, Mitchison, H, Johnson, C

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Pericentrin interacts with KASH domain-containing protein Syne-2 von Falk, N, Kessler, K, Glöckner, J, Boldt, K, Ueffing, M, Roepman, R, Thiel, C, Brandstätter, JH, Gießl, A

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa von Kirschner, Renate, Rosenberg, Thomas, Schultz-Heienbrok, Robert, Lenzner, Steffen, Feil, Silke, Roepman, Ronald, Cremers, Frans P. M., Ropers, Hans-Hilger, Berger, Wolfgang

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Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies von Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C

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A systems biology approach towards the prediction of ciliopathy mechanisms von Koutroumpas, K, Dam, J Van, Toedt, G, Lu, Q, Reeuwijk, J Van, Boldt, K, Gibson, T, Roepman, R, Ueffing, M, Russell, RB, Huynen, M, Elati, M, Képès, F

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Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment von Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E

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