Rho GTPase regulatory proteins in podocytes von Matsuda, Jun, Asano-Matsuda, Kana, Kitzler, Thomas M., Takano, Tomoko

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Understanding the Current Landscape of Kidney Disease in Canada to Advance Precision Medicine Guided Personalized Care von Kitzler, Thomas M., Chun, Justin

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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis von Sentell, Zachary T, Nurcombe, Zachary W, Mougharbel, Lina, Anastasio, Natascia, Rivière, Jean-Baptiste, Babayeva, Sima, Goodyer, Paul R, Torban, Elena, Kitzler, Thomas M

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Primary cilia and actin regulatory pathways in renal ciliopathies von Kalot, Rita, Sentell, Zachary, Kitzler, Thomas M, Torban, Elena

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Intrinsic tumor necrosis factor-α pathway is activated in a subset of patients with focal segmental glomerulosclerosis von Chung, Chen-Fang, Kitzler, Thomas, Kachurina, Nadezda, Pessina, Katarina, Babayeva, Sima, Bitzan, Martin, Kaskel, Frederic, Colmegna, Ines, Alachkar, Nada, Goodyer, Paul, Cybulsky, Andrey V, Torban, Elena

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Infectious Disease Risk in Dialysis Patients: A Transdisciplinary Approach von Lamarche, Caroline, Iliuta, Ioan-Andrei, Kitzler, Thomas

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Monogenic causes of chronic kidney disease in adults von Connaughton, Dervla M., Kennedy, Claire, Shril, Shirlee, Mann, Nina, Murray, Susan L., Williams, Patrick A., Conlon, Eoin, Nakayama, Makiko, van der Ven, Amelie T., Ityel, Hadas, Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Vivante, Asaf, Braun, Daniela A., Schneider, Ronen, Kitzler, Thomas M., Moloney, Brona, Moran, Conor P., Smyth, John S., Kennedy, Alan, Benson, Katherine, Stapleton, Caragh, Denton, Mark, Magee, Colm, O’Seaghdha, Conall M., Plant, William D., Griffin, Matthew D., Awan, Atif, Sweeney, Clodagh, Mane, Shrikant M., Lifton, Richard P., Griffin, Brenda, Leavey, Sean, Casserly, Liam, de Freitas, Declan G., Holian, John, Dorman, Anthony, Doyle, Brendan, Lavin, Peter J., Little, Mark A., Conlon, Peter J., Hildebrandt, Friedhelm

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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome von Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kuhl, Susanne J., Schanze, Denny, Klambt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kuhl, Michael, Onuchic-Whitford, Ana C., Treimer, Ernestine, Kitzler, Thomas M., Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T., Majmundar, Amar J., Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A., Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R., Soliman, Neveen A., Mane, Shrikant M., Lifton, Richard P., Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J., Zenker, Martin, Hildebrandt, Friedhelm

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Use of genomic and functional analysis to characterize patients with steroid-resistant nephrotic syndrome von Kitzler, Thomas M., Kachurina, Nadezda, Bitzan, Martin M., Torban, Elena, Goodyer, Paul R.

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Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease von Moskowitz, Jonathan L, Piret, Sian E, Lhotta, Karl, Kitzler, Thomas M, Tashman, Adam P, Velez, Erin, Thakker, Rajesh V, Kotanko, Peter

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Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review von Nowak-Ciołek, Maria, Ciołek, Michał, Tomaszewska, Agnieszka, Hildebrandt, Friedhelm, Kitzler, Thomas, Deutsch, Konstantin, Lemberg, Katharina, Shril, Shirlee, Szczepańska, Maria, Zachurzok, Agnieszka

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum von Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B, Bayat, Allan, Kitzler, Thomas M, Brownstein, Catherine A, Genetti, Casie A, Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W, Zhu, Zehua, Vachet, Clemence, Wilson, Gena R, Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients von Mann, Nina, Braun, Daniela A, Amann, Kassaundra, Tan, Weizhen, Shril, Shirlee, Connaughton, Dervla M, Nakayama, Makiko, Schneider, Ronen, Kitzler, Thomas M, van der Ven, Amelie T, Chen, Jing, Ityel, Hadas, Vivante, Asaf, Majmundar, Amar J, Daga, Ankana, Warejko, Jillian K, Lovric, Svjetlana, Ashraf, Shazia, Jobst-Schwan, Tilman, Widmeier, Eugen, Hugo, Hannah, Mane, Shrikant M, Spaneas, Leslie, Somers, Michael J G, Ferguson, Michael A, Traum, Avram Z, Stein, Deborah R, Baum, Michelle A, Daouk, Ghaleb H, Lifton, Richard P, Manzi, Shannon, Vakili, Khashayar, Kim, Heung Bae, Rodig, Nancy M, Hildebrandt, Friedhelm

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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions von Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, Hildebrandt, Friedhelm

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COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans von Kitzler, Thomas M., Schneider, Ronen, Kohl, Stefan, Kolvenbach, Caroline M., Connaughton, Dervla M., Dai, Rufeng, Mann, Nina, Nakayama, Makiko, Majmundar, Amar J., Wu, Chen-Han W., Kari, Jameela A., El Desoky, Sherif M., Senguttuvan, Prabha, Bogdanovic, Radovan, Stajic, Natasa, Valivullah, Zaheer, Lek, Monkol, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm

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Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans von Klambt, Verena, Werth, Max, Onuchic-Whitford, Ana C., Getwan, Maike, Kitzler, Thomas M., Buerger, Florian, Mao, Youying, Deutsch, Konstantin, Mann, Nina, Majmundar, Amar J., Kaminski, Michael M., Shen, Tian, Schmidt-Ott, Kai M., Shalaby, Mohamed, El Desoky, Sherif, Kari, Jameela A., Shril, Shirlee, Lienkamp, Soeren S., Barasch, Jonathan, Hildebrandt, Friedhelm

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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes von Kolvenbach, Caroline M., Ven, Amelie T., Kause, Franziska, Shril, Shirlee, Scala, Marcello, Connaughton, Dervla M., Mann, Nina, Nakayama, Makiko, Dai, Rufeng, Kitzler, Thomas M., Schneider, Ronen, Schierbaum, Luca, Schneider, Sophia, Accogli, Andrea, Torella, Annalaura, Piatelli, Gianluca, Nigro, Vincenzo, Capra, Valeria, Hoppe, Bernd, Märzheuser, Stefanie, Schmiedeke, Eberhard, Rehm, Heidi L., Mane, Shrikant, Lifton, Richard P., Dworschak, Gabriel C., Hilger, Alina C., Reutter, Heiko, Hildebrandt, Friedhelm

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Complement modulates the function of the ubiquitin–proteasome system and endoplasmic reticulum-associated degradation in glomerular epithelial cells von Kitzler, Thomas M., Papillon, Joan, Guillemette, Julie, Wing, Simon S., Cybulsky, Andrey V.

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Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models von Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen‐Han Wilfred, Nicolas‐Frank, Camille, Yousef, Kirollos, Au, Kit Sing, Mann, Nina, Pantel, Dalia, Schneider, Sophia, Schierbaum, Luca, Kitzler, Thomas M., Connaughton, Dervla M., Mao, Youying, Dai, Rufeng, Nakayama, Makiko, Kari, Jameela A., El Desoky, Sherif, Shalaby, Mohammed, Eid, Loai A., Awad, Hazem S., Tasic, Velibor, Mane, Shrikant M., Lifton, Richard P., Baum, Michelle A., Shril, Shirlee, Estrada, Carlos R., Hildebrandt, Friedhelm

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Endoplasmic reticulum stress in glomerular epithelial cell injury von Cybulsky, Andrey V, Takano, Tomoko, Papillon, Joan, Kitzler, Thomas M, Bijian, Krikor

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