Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract von Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile

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FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man von Barak, Hila, Huh, Sung-Ho, Chen, Shuang, Jeanpierre, Cécile, Martinovic, Jelena, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Salomon, Rémi, Antignac, Corinne, Ornitz, David M., Kopan, Raphael

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

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Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes von Dorval, Guillaume, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania, Amiel, Jeanne, Spaggari, Emmanuel, Ville, Yves, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, Heidet, Laurence

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion von Dupont, Marie Alice, Humbert, Camille, Huber, Céline, Siour, Quentin, Guerrera, Ida Chiara, Jung, Vincent, Christensen, Anni, Pouliet, Aurore, Garfa-Traoré, Meriem, Nitschké, Patrick, Injeyan, Marie, Millar, Kathryn, Chitayat, David, Shannon, Patrick, Girisha, Katta Mohan, Shukla, Anju, Mechler, Charlotte, Lorentzen, Esben, Benmerah, Alexandre, Cormier-Daire, Valérie, Jeanpierre, Cécile, Saunier, Sophie, Delous, Marion

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Severe Prenatal Renal Anomalies Associated with Mutations in HNF1B or PAX2 Genes von Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Jelena Martinovic, Pierre Dechelotte, Nathalie Leporrier, Christel Thauvin-Robinet, Uffe Birk Jensen, Dominique Gaillard, Michele Mathieu, Bruno Turlin, Tania Attie-Bitach, Rémi Salomon, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice von De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans von Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile

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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish von Reilly, Madeline Louise, Stokman, Marijn F, Magry, Virginie, Jeanpierre, Cecile, Alves, Marine, Paydar, Mohammadjavad, Hellinga, Jacqueline, Delous, Marion, Pouly, Daniel, Failler, Marion, Martinovic, Jelena, Loeuillet, Laurence, Leroy, Brigitte, Tantau, Julia, Roume, Joelle, Gregory-Evans, Cheryl Y, Shan, Xianghong, Filges, Isabel, Allingham, John S, Kwok, Benjamin H, Saunier, Sophie, Giles, Rachel H, Benmerah, Alexandre

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DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis von Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, Saunier, Sophie

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Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases von Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence

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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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Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros von BURCKLE, Céline, GAUDE, Helori-Mael, VESQUE, Christine, SILBERMANN, Flora, SALOMON, Rémi, JEANPIERRE, Cécile, ANTIGNAC, Corinne, SAUNIER, Sophie, SCHNEIDER-MAUNOURY, Sylvie

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Small Glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) Syndrome von Dahan, Karine, MD, Kamal, Maud, PhD, Noël, Laure Hélène, MD, Jeanpierre, Cécile, PhD, Gubler, Marie Claire, PhD, Brousse, Nicole, PhD, Mariaud de Serre, Natacha Patey, MD

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract von Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasà, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone

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Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) von Renkema, Kirsten Y., Winyard, Paul J., Skovorodkin, Ilya N., Levtchenko, Elena, Hindryckx, An, Jeanpierre, Cécile, Weber, Stefanie, Salomon, Rémi, Antignac, Corinne, Vainio, Seppo, Schedl, Andreas, Schaefer, Franz, Knoers, Nine V.A.M., Bongers, Ernie M.H.F.

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Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) von Kosfeld, Anne, Kreuzer, Martin, Daniel, Christoph, Brand, Frank, Schäfer, Anne-Kathrin, Chadt, Alexandra, Weiss, Anna-Carina, Riehmer, Vera, Jeanpierre, Cécile, Klintschar, Michael, Bräsen, Jan Hinrich, Amann, Kerstin, Pape, Lars, Kispert, Andreas, Al-Hasani, Hadi, Haffner, Dieter, Weber, Ruthild G.

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Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice von Berry, Rachel L, Ozdemir, Derya D, Aronow, Bruce, Lindström, Nils O, Dudnakova, Tatiana, Thornburn, Anna, Perry, Paul, Baldock, Richard, Armit, Chris, Joshi, Anagha, Jeanpierre, Cécile, Shan, Jingdong, Vainio, Seppo, Baily, James, Brownstein, David, Davies, Jamie, Hastie, Nicholas D, Hohenstein, Peter

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome von Lopez-Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E, Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D’Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nicholas, Sanna-Cherchi, Simone

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Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas von Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric

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