Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport von Blacque, O E, Leroux, M R

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Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome von Ansley, Stephen J., Badano, Jose L., Blacque, Oliver E., Hill, Josephine, Hoskins, Bethan E., Leitch, Carmen C., Chul Kim, Jun, Ross, Alison J., Eichers, Erica R., Teslovich, Tanya M., Mah, Allan K., Johnsen, Robert C., Cavender, John C., Alan Lewis, Richard, Leroux, Michel R., Beales, Philip L., Katsanis, Nicholas

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Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport von Blacque, Oliver E, Reardon, Michael J, Li, Chunmei, McCarthy, Jonathan, Mahjoub, Moe R, Ansley, Stephen J, Badano, Jose L, Mah, Allan K, Beales, Philip L, Davidson, William S, Johnsen, Robert C, Audeh, Mark, Plasterk, Ronald H A, Baillie, David L, Katsanis, Nicholas, Quarmby, Lynne M, Wicks, Stephen R, Leroux, Michel R

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Functional Genomics of the Cilium, a Sensory Organelle von Blacque, Oliver E., Perens, Elliot A., Boroevich, Keith A., Inglis, Peter N., Li, Chunmei, Warner, Adam, Khattra, Jaswinder, Holt, Rob A., Ou, Guangshuo, Mah, Allan K., McKay, Sheldon J., Huang, Peter, Swoboda, Peter, Jones, Steve J.M., Marra, Marco A., Baillie, David L., Moerman, Donald G., Shaham, Shai, Leroux, Michel R.

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Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport von Blacque, O. E., Leroux, M. R.

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Endosome maturation factors Rabenosyn‐5/VPS45 and caveolin‐1 regulate ciliary membrane and polycystin‐2 homeostasis von Scheidel, Noémie, Kennedy, Julie, Blacque, Oliver E

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Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene von Li, Jin Billy, Gerdes, Jantje M, Haycraft, Courtney J, Fan, Yanli, Teslovich, Tanya M, May-Simera, Helen, Li, Haitao, Blacque, Oliver E, Li, Linya, Leitch, Carmen C, Lewis, Richard Allan, Green, Jane S, Parfrey, Patrick S, Leroux, Michel R, Davidson, William S, Beales, Philip L, Guay-Woodford, Lisa M, Yoder, Bradley K, Stormo, Gary D, Katsanis, Nicholas, Dutcher, Susan K

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Functional coordination of intraflagellar transport motors von Ou, Guangshuo, E. Blacque, Oliver, Snow, Joshua J., Leroux, Michel R., Scholey, Jonathan M.

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome von Fan, Yanli, Esmail, Muneer A, Ansley, Stephen J, Blacque, Oliver E, Boroevich, Keith, Ross, Alison J, Moore, Susan J, Badano, Jose L, May-Simera, Helen, Compton, Deanna S, Green, Jane S, Lewis, Richard Alan, van Haelst, Mieke M, Parfrey, Patrick S, Baillie, David L, Beales, Philip L, Katsanis, Nicholas, Davidson, William S, Leroux, Michel R

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Evidence for a Direct Interaction between the Tumor Suppressor Serpin, Maspin, and Types I and III Collagen von Blacque, Oliver E., Worrall, D. Margaret

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Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia von Efimenko, Evgeni, Blacque, Oliver E, Ou, Guangshuo, Haycraft, Courtney J, Yoder, Bradley K, Scholey, Jonathan M, Leroux, Michel R, Swoboda, Peter

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Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics von Chen, Nansheng, Mah, Allan, Blacque, Oliver E, Chu, Jeffrey, Phgora, Kiran, Bakhoum, Mathieu W, Newbury, C Rebecca Hunt, Khattra, Jaswinder, Chan, Susanna, Go, Anne, Efimenko, Evgeni, Johnsen, Robert, Phirke, Prasad, Swoboda, Peter, Marra, Marco, Moerman, Donald G, Leroux, Michel R, Baillie, David L, Stein, Lincoln D

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Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans von Lange, KI, Best, S, Tsiropoulou, S, Berry, I, Johnson, CA, Blacque, OE

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

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CiliaCarta: An integrated and validated compendium of ciliary genes von Van Dam, TJP, Kennedy, J, Van der Lee, R, De Vrieze, E, Wunderlich, KA, Rix, S, Dougherty, GW, Lambacher, NJ, Li, C, Jensen, VL, Leroux, MR, Hjeij, R, Horn, N, Texier, Y, Wissinger, Y, Van Reeuwijk, J, Wheway, G, Knapp, B, Scheel, JF, Franco, B, Mans, DA, Van Wijk, E, Képès, F, Slaats, GG, Toedt, G, Kremer, H, Omran, H, Szymanska, K, Koutroumpas, K, Ueffing, M, Nguyen, T-MT, Letteboer, SJF, Oud, MM, Van Beersum, SEC, Schmidts, M, Beales, PL, Lu, Q, Giles, RH, Szklarczyk, R, Russell, RB, Gibson, TJ, Johnson, CA, Blacque, OE, Wolfrum, U, Boldt, K, Roepman, R, Hernandez-Hernandez, V, Huynen, MA

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CiliaCarta: An integrated and validated compendium of ciliary genes von van Dam, TJP, Kennedy, J, van der Lee, R, de Vrieze, E, Wunderlich, KA, Rix, S, Dougherty, GW, Lambacher, NJ, Li, C, Jensen, VL, Leroux, MR, Hjeij, R, Horn, N, Texier, Y, Wissinger, Y, van Reeuwijk, J, Wheway, G, Knapp, B, Scheel, JF, Franco, B, Mans, DA, van Wijk, E, Képès, F, Slaats, GG, Toedt, G, Kremer, H, Omran, H, Szymanska, K, Koutroumpas, K, Ueffing, M, Nguyen, T-MT, Letteboer, SJF, Oud, MM, van Beersum, SEC, Schmidts, M, Beales, PL, Lu, Q, Giles, RH, Szklarczyk, R, Russell, RB, Gibson, TJ, Johnson, CA, Blacque, OE, Wolfrum, U, Boldt, K, Roepman, R, Hernandez-Hernandez, V, Huynen, MA

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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes von Bruel, A-L, Franco, B, Duffourd, Y, Thevenon, J, Jego, L, Lopez, E, Deleuze, J-F, Doummar, D, Giles, RH, Johnson, CA, Huynen, MA, Chevrier, V, Burglen, L, Morleo, M, Desguerres, I, Pierquin, G, Doray, B, Gilbert-Dussardier, B, Reversade, B, Steichen-Gersdorf, E, Baumann, C, Panigrahi, I, Fargeot-Espaliat, A, Dieux, A, David, A, Goldenberg, A, Bongers, E, Gaillard, D, Argente, J, Aral, B, Gigot, N, St-Onge, J, Birnbaum, D, Phadke, SR, Cormier-Daire, V, Eguether, T, Pazour, GJ, Herranz-Pérez, V, Goldstein, JS, Pasquier, L, Loget, P, Saunier, S, Mégarbané, A, Rosnet, O, Leroux, MR, Wallingford, JB, Blacque, OE, Nachury, MV, Attie-Bitach, T, Rivière, J-B, Faivre, L, Thauvin-Robinet, C

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TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome von Lambacher, NJ, Bruel, A, van Dam, TJP, Szymanska, K, Slaats, GG, Kuhns, S, McManus, GJ, Kennedy, JE, Gaff, K, Wu, KM, van der Lee, R, Burglen, L, Doummar, D, Riviere, JB, Faivre, L, Attie-Bitach, T, Saunier, S, Curd, A, Peckham, M, Giles, RH, Johnson, CA, Huynen, MA, Thauvin-Robinet, C, Blacque, OE

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms von Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, TM, Texier, Y, Van Beersum, SE, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJ, Coene, KL, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJ, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJ, De Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, Van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, UK10K Rare Diseases Group

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Dataset Supporting Publication Entitled: Kiaa0556 Is A Novel Ciliary Basal Body Component Mutated In Joubert Syndrome von Sanders, AWM, de Vrieze, E, Alazami, A, Malarkey, EB, Kuhns, S, Yoder, BK, Van Wijk, E, Alkuraya, FS, Blacque, OE

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