A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

od Cong, Evelyne Huynh, Bizet, Albane A., Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, Canaud, Guillaume, Hachicha, Jamil, Ben Dhia, Nasr, Peraldi, Marie-Noëlle, Harzallah, Kais, Iftene, Daouia, Daniel, Laurent, Willems, Marjolaine, Noel, Laure-Hélène, Bole-Feysot, Christine, Nitschké, Patrick, Gubler, Marie-Claire, Mollet, Géraldine, Saunier, Sophie, Antignac, Corinne
izdano v J Am Soc Nephrol (2014)

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

od Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Olivier, Masson, Cécile, Brochard, Karine, Hurault de Ligny, Bruno, Novo, Robert, Pietrement, Christine, Kayserili, Hulya, Salomon, Rémi, Gubler, Marie-Claire, Otto, Edgar A., Antignac, Corinne, Kim, Joon, Benmerah, Alexandre, Hildebrandt, Friedhelm, Saunier, Sophie
Izdano 2014

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

od Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
izdano v PLoS Genet (2016)

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

od Thomas, Sophie, Wright, Kevin J., Le Corre, Stéphanie, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, Attié-Bitach, Tania
Izdano 2014

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

od 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
Izdano 2012

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

od 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.
Izdano 2011

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

od Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie
izdano v Nat Commun (2015)

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

od Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, Benmerah, Alexandre
izdano v Am J Hum Genet (2017)

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

od Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, Benmerah, Alexandre
izdano v Am J Hum Genet (2017)

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

od Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Soliman Elshakhs, Neveen A., Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S.
Izdano 2013

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

od Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm
Izdano 2013