Ciliopathies von Braun, Daniela A, Hildebrandt, Friedhelm

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Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte von Hermle, Tobias, Braun, Daniela A, Helmstädter, Martin, Huber, Tobias B, Hildebrandt, Friedhelm

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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability von 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

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis von Halbritter, Jan, Baum, Michelle, Hynes, Ann Marie, Rice, Sarah J, Thwaites, David T, Gucev, Zoran S, Fisher, Brittany, Spaneas, Leslie, Porath, Jonathan D, Braun, Daniela A, Wassner, Ari J, Nelson, Caleb P, Tasic, Velibor, Sayer, John A, Hildebrandt, Friedhelm

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Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model von 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

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A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes von Rinschen, Markus M., Gödel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstädter, Martin, Kretz, Oliver, Zarei, Mostafa, Braun, Daniela A., Dittrich, Sebastian, Pahmeyer, Caroline, Schroder, Patricia, Teetzen, Carolin, Gee, HeonYung, Daouk, Ghaleb, Pohl, Martin, Kuhn, Elisa, Schermer, Bernhard, Küttner, Victoria, Boerries, Melanie, Busch, Hauke, Schiffer, Mario, Bergmann, Carsten, Krüger, Marcus, Hildebrandt, Friedhelm, Dengjel, Joern, Benzing, Thomas, Huber, Tobias B.

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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis von 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

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DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling von Schueler, Markus, Braun, Daniela A., Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D., Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J., Che, Alicia, Otto, Edgar A., Böckenhauer, Detlef, Sebire, Neil J., Honzik, Tomas, Harris, Peter C., Koon, Sarah J., Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P.H., Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P., Giles, Rachel H., Kere, Juha, Hildebrandt, Friedhelm

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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy von Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.

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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome von Braun, Daniela A, Sadowski, Carolin E, Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A, Pabst, Werner L, Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A, Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J, Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P, Antonin, Wolfram, Hildebrandt, Friedhelm

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It All Happens at Once: Understanding Electoral Behaviour in Second-Order Elections von Schmitt, Hermann, Sanz, Alberto, Braun, Daniela, Teperoglou, Eftichia

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Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment von Schönauer, Ria, Jin, Wenjun, Ertel, Anastasia, Nemitz-Kliemchen, Melanie, Panitz, Nydia, Hantmann, Elena, Seidel, Anna, Braun, Daniela A., Shril, Shirlee, Hansen, Matthias, Shahzad, Khurrum, Sandford, Richard, Saunier, Sophie, Benmerah, Alexandre, Bergmann, Carsten, Hildebrandt, Friedhelm, Halbritter, Jan

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The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects von Krausel, Vanessa, Pund, Lisanne, Nüsse, Harald, Bachir, Hussein, Ricker, Andrea, Klingauf, Jürgen, Weide, Thomas, Pavenstädt, Hermann, Krahn, Michael P., Braun, Daniela A.

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Mutations in WDR4 as a new cause of Galloway–Mowat syndrome von 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

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Mutations in SLC26A1 Cause Nephrolithiasis von Gee, Heon Yung, Jun, Ikhyun, Braun, Daniela A., Lawson, Jennifer A., Halbritter, Jan, Shril, Shirlee, Nelson, Caleb P., Tan, Weizhen, Stein, Deborah, Wassner, Ari J., Ferguson, Michael A., Gucev, Zoran, Sayer, John A., Milosevic, Danko, Baum, Michelle, Tasic, Velibor, Lee, Min Goo, Hildebrandt, Friedhelm

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome von Braun, Daniela A, Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Eddy, Kaitlyn, Kitzler, Thomas M, Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A, Lawson, Jennifer A, Gee, Heon Yung, Warejko, Jillian K, Hermle, Tobias, Majmundar, Amar J, Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M, Gale, Daniel P, Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A, Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S, Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P, Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K, Hildebrandt, Friedhelm

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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy von Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Schueler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen, Shril, Shirlee, Körber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung, Hildebrandt, Friedhelm

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Plasma protein signatures reflect systemic immunity and allograft function in kidney transplantation von Buscher, Konrad, Rixen, Rebecca, Schütz, Paula, Hüchtmann, Birte, Van Marck, Veerle, Heitplatz, Barbara, Jehn, Ulrich, Braun, Daniela A, Gabriëls, Gert, Pavenstädt, Hermann, Reuter, Stefan

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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression von Yang, Chaozhe, Harafuji, Naoe, O’Connor, Amber K., Kesterson, Robert A., Watts, Jacob A., Majmundar, Amar J., Braun, Daniela A., Lek, Monkol, Laricchia, Kristen M., Fathy, Hanan M., Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Guay-Woodford, Lisa M.

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Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome von 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

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