The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking von Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F, Kremer, Hannie, van Wijk, Erwin

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 von Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy von Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

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Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island von Alghaith, Fahad A., MacKay, Sara, Wallace, Karin, Locke, Jeff, Robitaille, Johane M., Dyack, Sarah, Arts, Heleen H.

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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome von Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.

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Ciliopathies: Genetics in Pediatric Medicine von Oud, Machteld M., Lamers, Ideke J. C., Arts, Heleen H.

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Scrutinizing ciliopathies by unraveling ciliary interaction networks von VAN REEUWIJK, Jeroen, ARTS, Heleen H, ROEPMAN, Ronald

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Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease von Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M, Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M, Schmidts, Miriam, Arts, Heleen H, Latos-Bielenska, Anna, Wasilewska, Anna

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome von Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M

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Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours von Bartlett, John, Amemiya, Yutaka, Arts, Heleen, Bayani, Jane, Eng, Barry, Grafodatskaya, Daria, Kamel Reid, Suzanne, Lariviere, Mathieu, Lo, Bryan, McClure, Rebecca, Mittal, Vinay, Sadikovic, Bekim, Sadis, Seth, Seth, Arun, Smith, Jeff, Zhang, Xiao, Feilotter, Harriet

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Current insights into renal ciliopathies: what can genetics teach us? von Arts, Heleen H., Knoers, Nine V. A. M.

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy von Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement von Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M

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Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature von Alghaith, Fahad A., Arts, Heleen H., Plourde, Francois J., Boswall, Andrew, Gulati, Partima, McNeely, P. Daniel, Acott, Philip D., Wong, Kenny K., Dyack, Sarah

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WDR35 variants in a cranioectodermal dysplasia patient with early onset end‐stage renal disease and retinal dystrophy von Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Sikora, Weronika, Pawlak, Marta, Bukowska‐Olech, Ewelina, Kopaczewski, Bartłomiej, Urzykowska, Agnieszka, Arts, Heleen H., Gotz‐Więckowska, Anna, Grenda, Ryszard, Latos‐Bieleńska, Anna, Glazar, Renata

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Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum von Maria, Maleeha, Lamers, Ideke J. C., Schmidts, Miriam, Ajmal, Muhammad, Jaffar, Sulman, Ullah, Ehsan, Mustafa, Bilal, Ahmad, Shakeel, Nazmutdinova, Katia, Hoskins, Bethan, van Wijk, Erwin, Koster-Kamphuis, Linda, Khan, Muhammad Imran, Beales, Phil L., Cremers, Frans P. M., Roepman, Ronald, Azam, Maleeha, Arts, Heleen H., Qamar, Raheel

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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35 von Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Stańczyk, Małgorzata, Pesz, Karolina, Dudarewicz, Lech, Chrul, Sławomir, Bukowska‐Olech, Ewelina, Wieczorek‐Cichecka, Nina, Arts, Heleen H., Oud, Machteld M., Śmigiel, Robert, Grenda, Ryszard, Obersztyn, Ewa, Chrzanowska, Krystyna H., Latos‐Bieleńska, Anna

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A mutation in IFT43 causes non-syndromic recessive retinal degeneration von Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Matsui, Hiroko, Naeem, Muhammad Asif, Raghavendra, Pongali B, Frazer, Kelly A, Arts, Heleen H, Riazuddin, Sheikh, Akram, Javed, Hejtmancik, J Fielding, Riazuddin, S Amer, Ayyagari, Radha

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Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35 von Walczak‐Sztulpa, Joanna, Wawrocka, Anna, Leszczynska, Beata, Mikulska, Boyana, Arts, Heleen H., Bukowska‐Olech, Ewelina, Daniel, Maria, Krawczynski, Maciej R., Latos‐Bielenska, Anna, Obersztyn, Ewa

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