Mutations in WDR4 as a new cause of Galloway–Mowat syndrome
Braun, Daniela A., Shril, Shirlee, Sinha, Aditi, Schneider, Ronen, Tan, Weizhen, Ashraf, Shazia, Hermle, Tobias, Jobst‐Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Nakayama, Makiko, Schapiro, David, Chen, Jing, Airik, Merlin, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Hugo, Hannah, Meena, Jitendra, Lek, Monkol, Laricchia, Kristen M., Bagga, Arvind, Hildebrandt, Friedhelm
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
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
Published in Journal of the American Society of Nephrology (01.02.2019)
Published in Journal of the American Society of Nephrology (01.02.2019)
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Journal Article
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Ashraf, Shazia, Kudo, Hiroki, Rao, Jia, Kikuchi, Atsuo, Widmeier, Eugen, Lawson, Jennifer A., Tan, Weizhen, Hermle, Tobias, Warejko, Jillian K., Shril, Shirlee, Airik, Merlin, Jobst-Schwan, Tilman, Lovric, Svjetlana, Braun, Daniela A., Gee, Heon Yung, Schapiro, David, Majmundar, Amar J., Sadowski, Carolin E., Pabst, Werner L., Daga, Ankana, van der Ven, Amelie T., Schmidt, Johanna M., Low, Boon Chuan, Gupta, Anjali Bansal, Tripathi, Brajendra K., Wong, Jenny, Campbell, Kirk, Metcalfe, Kay, Schanze, Denny, Niihori, Tetsuya, Kaito, Hiroshi, Nozu, Kandai, Tsukaguchi, Hiroyasu, Tanaka, Ryojiro, Hamahira, Kiyoshi, Kobayashi, Yasuko, Takizawa, Takumi, Funayama, Ryo, Nakayama, Keiko, Aoki, Yoko, Kumagai, Naonori, Iijima, Kazumoto, Fehrenbach, Henry, Kari, Jameela A., El Desoky, Sherif, Jalalah, Sawsan, Bogdanovic, Radovan, Stajić, Nataša, Zappel, Hildegard, Rakhmetova, Assel, Wassmer, Sharon-Rose, Jungraithmayr, Therese, Strehlau, Juergen, Kumar, Aravind Selvin, Bagga, Arvind, Soliman, Neveen A., Mane, Shrikant M., Kaufman, Lewis, Lowy, Douglas R., Jairajpuri, Mohamad A., Lifton, Richard P., Pei, York, Zenker, Martin, Kure, Shigeo, Hildebrandt, Friedhelm
Published in Nature communications (17.05.2018)
Published in Nature communications (17.05.2018)
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Journal Article
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kühl, Susanne J, Schanze, Denny, Klämbt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kühl, 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
Published in Journal of the American Society of Nephrology (01.03.2021)
Published in Journal of the American Society of Nephrology (01.03.2021)
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Journal Article
Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex
Tossidou, Irini, Teng, Beina, Worthmann, Kirstin, Müller-Deile, Janina, Jobst-Schwan, Tilman, Kardinal, Christian, Schroder, Patricia, Bolanos-Palmieri, Patricia, Haller, Hermann, Willerding, Jonas, Drost, Dana M, de Jonge, Laura, Reubold, Thomas, Eschenburg, Susanne, Johnson, Ruth I, Schiffer, Mario
Published in Journal of the American Society of Nephrology (01.07.2019)
Published in Journal of the American Society of Nephrology (01.07.2019)
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Journal Article
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
Rao, Jia, Ashraf, Shazia, Tan, Weizhen, van der Ven, Amelie T, Gee, Heon Yung, Braun, Daniela A, Fehér, Krisztina, George, Sudeep P, Esmaeilniakooshkghazi, Amin, Choi, Won-Il, Jobst-Schwan, Tilman, Schneider, Ronen, Schmidt, Johanna Magdalena, Widmeier, Eugen, Warejko, Jillian K, Hermle, Tobias, Schapiro, David, Lovric, Svjetlana, Shril, Shirlee, Daga, Ankana, Nayir, Ahmet, Shenoy, Mohan, Tse, Yincent, Bald, Martin, Helmchen, Udo, Mir, Sevgi, Berdeli, Afig, Kari, Jameela A, El Desoky, Sherif, Soliman, Neveen A, Bagga, Arvind, Mane, Shrikant, Jairajpuri, Mohamad A, Lifton, Richard P, Khurana, Seema, Martins, Jose C, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.12.2017)
Published in The Journal of clinical investigation (01.12.2017)
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Journal Article
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome
Braun, Daniela A, Warejko, Jillian K, Ashraf, Shazia, Tan, Weizhen, Daga, Ankana, Schneider, Ronen, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Nakayama, Makiko, Schapiro, David, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Hugo, Hannah, Bakkaloglu, Sevcan A, Kari, Jameela A, El Desoky, Sherif, Daouk, Ghaleb, Mane, Shrikant, Lifton, Richard P, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.03.2019)
Published in Nephrology, dialysis, transplantation (01.03.2019)
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Journal Article
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model
Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Schneider, Ronen, Hoogstraten, Charlotte A, Ullmann, Jeremy F P, Schapiro, David, Majmundar, Amar J, Kolb, Amy, Eddy, Kaitlyn, Shril, Shirlee, Braun, Daniela A, Poduri, Annapurna, Hildebrandt, Friedhelm
Published in PloS one (18.01.2018)
Published in PloS one (18.01.2018)
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Journal Article
Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney
Cazorla-Vázquez, Salvador, Kösters, Peter, Bertz, Simone, Pfister, Frederick, Daniel, Christoph, Dedden, Mark, Zundler, Sebastian, Jobst-Schwan, Tilman, Amann, Kerstin, Engel, Felix B
Published in Cells (Basel, Switzerland) (01.08.2023)
Published in Cells (Basel, Switzerland) (01.08.2023)
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Journal Article
Pharmacodynamic Effect of mTOR Inhibition-based Immunosuppressive Therapy on T- and B-cell Subsets After Renal Transplantation
Wei, Xinyi, Weber, Sabine, Yin, Decheng, Allabauer, Ida, Jobst-Schwan, Tilman, Wiesener, Michael, Schiffer, Mario, Dudziak, Diana, Lehmann, Christian H K, Woelfle, Joachim, Hoerning, Andre
Published in Transplantation direct (01.07.2024)
Published in Transplantation direct (01.07.2024)
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Journal Article
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
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
Published in Genes & diseases (01.09.2024)
Published in Genes & diseases (01.09.2024)
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Journal Article
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis
Jobst-Schwan, Tilman, Pannes, Andrea, Schlingmann, Karl Peter, Eckardt, Kai-Uwe, Beck, Bodo B., Wiesener, Michael S.
Published in Kidney & blood pressure research (01.01.2015)
Published in Kidney & blood pressure research (01.01.2015)
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Journal Article
Interstitial LRP1 Expression Is Associated With Glomerular Disease: TH-PO428
Groener, Marwin, Jobst-Schwan, Tilman, Schiffer, Mario
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
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Journal Article
The Role of LRP1 in Podocytes: PO1698
Groener, Marwin, Bolanos-Palmieri, Patricia, Jobst-Schwan, Tilman, Schiffer, Mario
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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Journal Article
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko, Jillian K, Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A, Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Schneider, Ronen, Gee, Heon Yung, Schmidt, J Magdalena, Vivante, Asaf, van der Ven, Amelie T, Ityel, Hadas, Chen, Jing, Sadowski, Carolin E, Kohl, Stefan, Pabst, Werner L, Nakayama, Makiko, Somers, Michael J G, Rodig, Nancy M, Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R, Ferguson, Michael A, Traum, Avram Z, Soliman, Neveen A, Kari, Jameela A, El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A, Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A, Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B, Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P, Braun, Daniela A, Hildebrandt, Friedhelm
Published in Clinical journal of the American Society of Nephrology (06.01.2018)
Published in Clinical journal of the American Society of Nephrology (06.01.2018)
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Journal Article
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis
Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela A., El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm
Published in Kidney international (01.01.2018)
Published in Kidney international (01.01.2018)
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Journal Article
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Braun, Daniela A, Rao, Jia, Mollet, Geraldine, Schapiro, David, Daugeron, Marie-Claire, Tan, Weizhen, Gribouval, Olivier, Boyer, Olivia, Revy, Patrick, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Lawson, Jennifer A, Schanze, Denny, Ashraf, Shazia, Ullmann, Jeremy F P, Hoogstraten, Charlotte A, Boddaert, Nathalie, Collinet, Bruno, Martin, Gaëlle, Liger, Dominique, Lovric, Svjetlana, Furlano, Monica, Guerrera, I Chiara, Sanchez-Ferras, Oraly, Hu, Jennifer F, Boschat, Anne-Claire, Sanquer, Sylvia, Menten, Björn, Vergult, Sarah, De Rocker, Nina, Airik, Merlin, Hermle, Tobias, Shril, Shirlee, Widmeier, Eugen, Gee, Heon Yung, Choi, Won-Il, Sadowski, Carolin E, Pabst, Werner L, Warejko, Jillian K, Daga, Ankana, Basta, Tamara, Matejas, Verena, Scharmann, Karin, Kienast, Sandra D, Behnam, Babak, Beeson, Brendan, Begtrup, Amber, Bruce, Malcolm, Ch'ng, Gaik-Siew, Lin, Shuan-Pei, Chang, Jui-Hsing, Chen, Chao-Huei, Cho, Megan T, Gaffney, Patrick M, Gipson, Patrick E, Hsu, Chyong-Hsin, Kari, Jameela A, Ke, Yu-Yuan, Kiraly-Borri, Cathy, Lai, Wai-ming, Lemyre, Emmanuelle, Littlejohn, Rebecca Okashah, Masri, Amira, Moghtaderi, Mastaneh, Nakamura, Kazuyuki, Ozaltin, Fatih, Praet, Marleen, Prasad, Chitra, Roeder, Elizabeth R, Rump, Patrick, Schnur, Rhonda E, Shiihara, Takashi, Sinha, Manish D, Soliman, Neveen A, Soulami, Kenza, Sweetser, David A, Tsai, Wen-Hui, Tsai, Jeng-Daw, Topaloglu, Rezan, Vester, Udo, Viskochil, David H, Vatanavicharn, Nithiwat, Wierenga, Klaas J, Wolf, Matthias T F, Wong, Sik-Nin, Leidel, Sebastian A, Truglio, Gessica, Dedon, Peter C, Poduri, Annapurna, Mane, Shrikant, Lifton, Richard P, Bouchard, Maxime, Kannu, Peter, Chitayat, David, Magen, Daniella, Callewaert, Bert, van Tilbeurgh, Herman, Zenker, Martin, Antignac, Corinne, Hildebrandt, Friedhelm
Published in Nature genetics (01.10.2017)
Published in Nature genetics (01.10.2017)
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Journal Article
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A, Sadowski, Carolin E, Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H, Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P, Innes, A Micheil, Parboosingh, Jillian S, Lamont, Ryan E, Midgley, Julian P, Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S, Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R, Connolly, Anne M, Willing, Marcia C, Cooper, Megan A, Lifton, Richard P, Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Journal Article
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
van der Ven, Amelie T, Connaughton, Dervla M, Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Schulz, Julian, Braun, Daniela A, Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K, Daga, Ankana, Majmundar, Amar J, Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A, Hugo, Hannah, Kitzler, Thomas M, Kause, Franziska, Kolvenbach, Caroline M, Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R, Baum, Michelle A, Somers, Michael J G, Rodig, Nancy M, Ferguson, Michael A, Traum, Avram Z, Daouk, Ghaleb H, Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A, Kari, Jameela A, El Desoky, Sherif, Fathy, Hanan M, Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S, Eid, Loai A, Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L, MacArthur, Daniel G, Lek, Monkol, Laricchia, Kristen M, Wilson, Michael W, Mane, Shrikant M, Lifton, Richard P, Lee, Richard S, Bauer, Stuart B, Lu, Weining, Reutter, Heiko M, Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.09.2018)
Published in Journal of the American Society of Nephrology (01.09.2018)
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