A reference to assess cilium phenotype in ciliopathy patients

by Oud, M, Arts, H, Roepman, R
Published 2015

Dissecting the sub-structure of the intraflagellar transport complex B

by Texier, Y, van Reeuwijk, J, Mans, DA, Roepman, R, Boldt, K, Ueffing, M
Published 2012

The Usher syndrome 1G protein SANS participates in the transport of ciliary cargo in photoreceptor cells

by Sorusch, N, Bauß, K, Overlack, N, Kunz, A, van Wijk, E, Maerker, T, Roepman, R, Kremer, H, Wolfrum, U
Published 2012

Scrutinizing ciliopathies by unravelling the ciliary interactome

by van Reeuwijk, J, Boldt, K, Mans, DA, Texier, Y, van Beersum, SE, Letteboer, SJ, Nguyen, MTT, Ueffing, M, Roepman, R
Published 2012

Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells

by Knapp, B, Letteboer, SJ, van Wijk, E, Boldt, K, Ueffing, M, Kremer, H, Roepman, R, Wolfrum, U
Published 2012

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

by Boldt, K, Mans, DA, Won, J, van Reeuwijk, J, Texier, Y, Nishina, PM, Roepman, R, Ueffing, M
Published 2012

From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape

by Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB
Published 2015

Pericentrin interacts with KASH domain-containing protein Syne-2

by Falk, N, Kessler, K, Glöckner, J, Boldt, K, Ueffing, M, Roepman, R, Thiel, C, Brandstätter, JH, Gießl, A
Published 2015

Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. elegans Inv-like ciliary compartment

by Blacque, O, Cevik, S, Clarke, L, Van Wijk, E, Sanders, A, Van Reeuwijk, J, Boldt, K, Ueffing, M, Roepman, R, Kremer, H
Published 2012

Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment

by Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E
Published 2015

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

by 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
Published 2015

A systems biology approach towards the prediction of ciliopathy mechanisms

by 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
Published 2015

Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

by Arts, H, Schmidts, M, Bongers, EMHF, Oud, MM, Duijkers, LEM, Yap, Z, Stalker, J, Yntema, JL, Hoischen, A, Gilissen, C, Veltman, JA, Kutkowska-Kaźmierczak, A, Kamsteeg, EJ, Scambler, PJ, Beales, PL, Knoers, NVAM, Roepman, R, Mitchison, HM
Published 2012

SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”

by Roepman, R, Ueffing, M, Kremer, H, Huynen, MA, Gibson, TJ, Katsanis, N, Walz, GT, Wolfrum, U, Franco, B, Giles, RH, Beales, PL, Johnson, CA, Blacque, OE, Pontoglio, M, Képès, F, Apic, G, Russell, RB, Omran, H
Published 2012

The lebercilin-like protein is embedded in a ciliary protein network and is preferentially expressed in motile cilia

by Mans, DA, Coene, KLM, Boldt, K, Lamers, IJC, van Reeuwijk, J, Loges, NT, Bolat, E, Franke, L, Hetterschijt, L, Letteboer, SJF, Peters, TA, Omran, H, Cremers, FPM, Ueffing, M, Roepman, R
Published 2012

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

by 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
Published 2015

Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics

by Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S Van, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R
Published 2015

PDZD7 connects the Usher protein complex to the intraflagellar transport machinery

by Vrieze, E De, Creemers, L, Sorusch, N, Gorris, M, Reeuwijk, J Van, Beersum, S Van, Knapp, B, Boldt, K, Ueffing, M, Roepman, R, Wijk, E Van, Wolfram, U, Kremer, H
Published 2015

KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies

by Stokman, M, Oud, M, Reeuwijk, J Van, Lilien, M, De Kar, N Van, Nijman, I, Gilissen, C, Kroes, HY, Bongers, E, Geijsen, N, Kamsteeg, E, Cuppen, E, Roepman, R, Giles, R, Renkema, K, Arts, H, Knoers, N
Published 2015

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

by Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H
Published 2015