Universität zu Köln

Journal Article

Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert ORCID: 0000-0001-9285-7957, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, Rene J. M. and Hoenderop, Joost G. J. (2014). CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with. PLoS Genet., 10 (4). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Benz, Marcus R., Doetsch, Joerg, Ehren, Rasmus, Gellermann, Jutta, Haffner, Dieter, Hoyer, Peter F., Kemper, Markus J., Konrad, Martin, Querfeld, Uwe, Toenshoff, Burkhard and Weber, Lutz T. (2014). Protocol Of An Open, Randomized, Controlled, Multicenter Trial On The Initial Treatment Of Idiopathic Steroid-sensitive Nephrotic Syndrome In Children With Mycophenolate Mofetil Vs. Prednisone: The Intent Study. Pediatr. Nephrol., 29 (9). S. 1740 - 1741. NEW YORK: SPRINGER. ISSN 1432-198X

Boeckhaus, Jan, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Tonshoff, Burkhard, Ehren, Rasmus, Pape, Lars, Latta, Kay, Fehrenbach, Henry, Lange-Sperandio, Baerbel, Kettwig, Matthias, Hoyer, Peter, Staude, Hagen, Konrad, Martin, John, Ulrike, Gellermann, Jutta, Hoppe, Bernd, Galiano, Matthias, Gessner, Michaela, Pohl, Michael, Bergmann, Carsten, Friede, Tim and Gross, Oliver (2021). Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial. Clin. Genet., 99 (1). S. 143 - 157. HOBOKEN: WILEY. ISSN 1399-0004

Buescher, Anja K., Beck, Bodo B., Melk, Anette, Hoefele, Julia ORCID: 0000-0002-7917-7129, Kranz, Birgitta, Bamborschke, Daniel, Baig, Sabrina, Lange-Sperandio, Barbel, Jungraithmayr, Theresa, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie (2016). Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome. Clin. J. Am. Soc. Nephrol., 11 (2). S. 245 - 254. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1555-905X

Buescher, Anja K., Kranz, Birgitta, Beck, Bodo, Hoefele, Julia, Oh, Jun, Lange-sperandio, Baerbel, Jungraithmayr, Therese, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Melk, Anette, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie (2014). cns/srns-outcome-study: Efficacy Of Immunosuppressive Therapy And Renal Function In Patients With Hereditary And Non-hereditary Steroid-resistant Nephrotic Syndrome. Pediatr. Nephrol., 29 (9). S. 1673 - 1675. NEW YORK: SPRINGER. ISSN 1432-198X

Dasgupta, Debayan ORCID: 0000-0002-1064-0541, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew ORCID: 0000-0002-3443-9359, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl ORCID: 0000-0001-6973-5679, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Saevendahl, Lars, Munns, Craig F., Lee, Hang, Jueppner, Harald and Bergwitz, Clemens (2014). Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. J. Am. Soc. Nephrol., 25 (10). S. 2366 - 2376. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Ebner, Kathrin, Feldkoetter, Markus, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Konrad, Martin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Testa, Sara, Weber, Lutz Thorsten, Zerres, Klaus, Schaefer, Franz, Doetsch, Joerg and Liebau, Max Christoph (2014). Aregpkd - A European Arpkd Registry Study. Pediatr. Nephrol., 29 (9). S. 1835 - 1836. NEW YORK: SPRINGER. ISSN 1432-198X

Ehren, Rasmus, Benz, Marcus R., Doetsch, Jorg, Fichtner, Alexander, Gellermann, Jutta, Haffner, Dieter, Hocker, Britta, Hoyer, Peter F., Kaestner, Baerbel, Kemper, Markus J., Konrad, Martin, Luntz, Steffen, Querfeld, Uwe, Sander, Anja, Toenshoff, Burkhard and Weber, Lutz T. (2018). Initial treatment of steroid-sensitive idiopathic nephrotic syndrome in children with mycophenolate mofetil versus prednisone: protocol for a randomised, controlled, multicentre trial (INTENT study). BMJ Open, 8 (10). LONDON: BMJ PUBLISHING GROUP. ISSN 2044-6055

Feldkotter, Markus, Thys, Sarah, Adams, Anne ORCID: 0000-0003-3286-1131, Becker, Ingrid ORCID: 0000-0001-5829-3553, Buescher, Rainer, Pohl, Martin, Schild, Raphael, Pape, Lars, Schmitt, Claus Peter, Taylan, Christina, Wygoda, Simone, Klaus, Guenter, Fehrenbach, Henry, Montoya, Carmen, Konrad, Martin, Billing, Heiko, Schaar, Bettina and Hoppe, Bernd (2020). Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport. Pediatr. Nephrol., 36 (12). S. 3923 - 3933. NEW YORK: SPRINGER. ISSN 1432-198X

Feldkotter, Markus, Thys, Sarah, Adams, Anne, Becker, Ingrid ORCID: 0000-0001-5829-3553, Buescher, Rainer, Pohl, Martin, Schild, Raphael, Pape, Lars, Schmitt, Claus Peter, Taylan, Christina, Wygoda, Simone, Klaus, Guenter, Fehrenbach, Henry, Montoya, Carmen, Konrad, Martin, Billing, Heiko, Schaar, Bettina and Hoppe, Bernd (2020). Endurance-oriented training program with children and adolescents on maintenance hemodialysis to enhance dialysis efficacy-DiaSport (Jun, 10.1007/s00467-021-05114-8, 2021). Pediatr. Nephrol., 36 (12). S. 4013 - 4015. NEW YORK: SPRINGER. ISSN 1432-198X

Garcia, Sergio Camilo Lopez, Emma, Francesco, Walsh, Stephen, Fila, Marc, Hooman, Nakysa, Marcin, Zaniew, Bertholet-thomas, Aurelia, Colussi, Giacomo, Ebner, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Nevem A., Ariceta, Ciema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor ORCID: 0000-0002-3377-1245, Tsygin, Alexey, Demmer, Stephan, Gil-pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Tmka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela, Konig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuhl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Coskun, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallen, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Consortium, Drta, Kleta, Robert, Schaefer, Franz and Bockenhauer, Detlef ORCID: 0000-0001-5878-941X (2018). LONG-TERM OUTCOME AND TREATMENT PRACTICES IN DISTAL RENALTUBULAR ACIDOSIS. Pediatr. Nephrol., 33 (10). S. 1817 - 1818. NEW YORK: SPRINGER. ISSN 1432-198X

Gimpel, Charlotte, Avni, Fred E., Bergmann, Carsten, Cetiner, Metin, Habbig, Sandra, Haffner, Dieter, Koenig, Jens, Konrad, Martin, Liebau, Max C., Pape, Lars, Rellensmann, Georg, Titieni, Andrea, von Kaisenberg, Constantin, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2018). Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr., 172 (1). S. 74 - 87. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6211

Gimpel, Charlotte ORCID: 0000-0003-1296-9081, Bergmann, Carsten, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Breysem, Luc, Cadnapaphornchai, Melissa A., Cetiner, Metin, Dudley, Jan, Emma, Francesco, Konrad, Martin, Harris, Tess, Harris, Peter C., Koenig, Jens, Liebau, Max C., Marlais, Matko ORCID: 0000-0001-7503-7893, Mekahli, Djalila, Metcalfe, Alison M., Oh, Jun, Perrone, Ronald D., Sinha, Manish D., Titieni, Andrea, Torra, Roser ORCID: 0000-0001-8714-2332, Weber, Stefanie, Winyard, Paul J. D. and Schaefer, Franz (2019). International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat. Rev. Nephrol., 15 (11). S. 713 - 727. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1759-507X

Koenig, Jens C., Rutsch, Frank, Bockmeyer, Clemens, Baumgartner, Matthias, Beck, Bodo B., Kranz, Brigitta and Konrad, Martin (2015). Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. Pediatr. Nephrol., 30 (7). S. 1203 - 1207. NEW YORK: SPRINGER. ISSN 1432-198X

Koenig, Jens Christian, Karsay, Rebeka, Gerss, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurelia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stephane, Schanstra, Joost P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Toenshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra and Konrad, Martin (2022). Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int. Rep., 7 (9). S. 2016 - 2029. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Laghmani, Kamel ORCID: 0000-0002-2167-5766, Beck, Bodo B., Yang, Sung-Sen, Seaayfan, Elie ORCID: 0000-0003-4839-9834, Wenzel, Andrea, Reusch, Bjorn, Vitzthum, Helga, Priem, Dario ORCID: 0000-0002-2527-1101, Demaretz, Sylvie, Bergmann, Klasien, Duin, Leonie K., Goebel, Heike, Mache, Christoph, Thiele, Holger, Bartram, Malte P., Dombret, Carlos, Altmueller, Janine, Nuernberg, Peter, Benzing, Thomas, Levtchenko, Elena, Seyberth, Hannsjoerg W., Klaus, Guenter, Yigit, Goekhan, Lin, Shih-Hua, Timmer, Albert, de Koning, Tom J., Scherjon, Sicco A., Schlingmann, Karl P., Bertrand, Mathieu J. M., Rinschen, Markus M., de Backer, Olivier, Konrad, Martin and Koemhoff, Martin (2016). Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N. Engl. J. Med., 374 (19). S. 1853 - 1864. WALTHAM: MASSACHUSETTS MEDICAL SOC. ISSN 1533-4406

Loos, Sebastian ORCID: 0000-0002-8620-042X, Ahlenstiel, Thurid, Kranz, Brigitta, Staude, Hagen, Pape, Lars ORCID: 0000-0002-3635-6418, Haertel, Christoph, Vester, Udo, Buchtala, Laura, Benz, Kerstin, Hoppe, Bernd, Beringer, Ortraud, Krause, Martin, Mueller, Dominik, Pohl, Martin, Lemke, Johanna, Hillebrand, Georg, Kreuzer, Martin, Koenig, Jens, Wigger, Marianne, Konrad, Martin, Haffner, Dieter, Oh, Jun and Kemper, Markus J. (2012). An Outbreak of Shiga Toxin-Producing Escherichia coli O104:H4 Hemolytic Uremic Syndrome in Germany: Presentation and Short-term Outcome in Children. Clin. Infect. Dis., 55 (6). S. 753 - 760. CARY: OXFORD UNIV PRESS INC. ISSN 1537-6591

Loos, Sebastian ORCID: 0000-0002-8620-042X, Aulbert, Wiebke, Hoppe, Bernd, Ahlenstiel-Grunow, Thurid, Kranz, Birgitta, Wahl, Charlotte, Staude, Hagen, Humberg, Alexander, Benz, Kerstin, Krause, Martin, Pohl, Martin, Liebau, Max C., Schild, Raphael, Lemke, Johanna, Beringer, Ortraud, Mueller, Dominik, Haertel, Christoph, Wigger, Marianne, Vester, Udo, Konrad, Martin, Haffner, Dieter, Pape, Lars, Oh, Jun and Kemper, Markus J. (2017). Intermediate Follow-up of Pediatric Patients With Hemolytic Uremic Syndrome During the 2011 Outbreak Caused by E. coli O104:H4. Clin. Infect. Dis., 64 (12). S. 1637 - 1644. CARY: OXFORD UNIV PRESS INC. ISSN 1537-6591

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B., Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo ORCID: 0000-0001-6133-1899, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A., Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane ORCID: 0000-0001-6984-762X, Gil-Pena, Helena, Koster-Kamphuis, Linda ORCID: 0000-0002-9971-995X, La Scola, Claudio ORCID: 0000-0002-2644-7447, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter ORCID: 0000-0002-5584-2622, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A., Koenig, Jens, Taroni, Francesca, Thumfart, Julia ORCID: 0000-0003-1162-5295, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse ORCID: 0000-0002-3658-8622, Belkevich, Anna, Vargas-Poussou, Rosa ORCID: 0000-0002-4169-0680, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia ORCID: 0000-0002-3957-1359, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie ORCID: 0000-0002-6323-6673, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J., Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra ORCID: 0000-0003-3092-7790, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J., Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan and Mohebbi, Nilufar (2019). Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol. Dial. Transplant., 34 (6). S. 981 - 992. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Nuesken, Eva, Imschinetzki, Darja, Nuesken, Kai-Dietrich, Koerber, Friederike, Mentzel, Hans-Joachim, Peitz, Joachim, Bald, Martin, Buescher, Rainer, John, Ulrike, Klaus, Guenter, Konrad, Martin, Pape, Lars ORCID: 0000-0002-3635-6418, Toenshoff, Burkhard, Martin, David ORCID: 0000-0002-4279-3032, Weber, Lutz and Doetsch, Joerg (2015). Automated Greulich-Pyle bone age determination in children with chronic kidney disease. Pediatr. Nephrol., 30 (7). S. 1173 - 1180. NEW YORK: SPRINGER. ISSN 1432-198X

Okorn, Christine, Goertz, Anne, Vester, Udo, Beck, Bodo B., Bergmann, Carsten, Habbig, Sandra, Koenig, Jens, Konrad, Martin, Mueller, Dominik, Oh, Jun, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Schild, Raphael, Seeman, Tomas, Staudeu, Hagen, Thumfart, Julia ORCID: 0000-0003-1162-5295, Toenshoff, Burkhard, Walden, Ulrike, Weber, Lutz, Zaniew, Marcin, Zappel, Hildegard, Hoyer, Peter F. and Weber, Stefanie (2019). HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatr. Nephrol., 34 (6). S. 1065 - 1076. NEW YORK: SPRINGER. ISSN 1432-198X

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin (2018). Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am. J. Hum. Genet., 103 (5). S. 808 - 817. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F. (2021). mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J. Am. Soc. Nephrol., 32 (11). S. 2885 - 2900. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Spiro, Judith Eva, Konrad, Martin, Rieger-Fackeldey, Esther, Masjosthusmann, Katja, Amler, Susanne ORCID: 0000-0001-6903-2906, Klockenbusch, Walter and Schmitz, Ralf (2015). Renal oligo- and anhydramnios: cause, course and outcome-a single-center study. Arch. Gynecol. Obstet., 292 (2). S. 327 - 337. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie ORCID: 0000-0002-0375-6968, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier ORCID: 0000-0003-3744-4767, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma ORCID: 0000-0002-8232-6818, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos ORCID: 0000-0003-0104-4884, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi ORCID: 0000-0003-4682-0170, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel ORCID: 0000-0003-1859-5279, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia ORCID: 0009-0000-0731-9151, Bockenhauer, Detlef, Emma, Francesco ORCID: 0000-0002-0383-3468 and Nijenhuis, Tom ORCID: 0000-0002-4375-7236 (2022). Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study. Nephrol. Dial. Transplant., 37 (12). S. 2474 - 2487. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Weber, Stefanie, Buescher, Anja K., Hagmann, Henning, Liebau, Max C., Heberle, Christian, Ludwig, Michael, Rath, Sabine, Alberer, Martin, Beissert, Antje, Zenker, Martin, Hoyer, Peter F., Konrad, Martin, Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129 (2016). Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing. Pediatr. Nephrol., 31 (1). S. 73 - 82. NEW YORK: SPRINGER. ISSN 1432-198X

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Zaniew, Marcin, Moczulska, Anna ORCID: 0000-0002-8479-050X, Szezepanska, Maria, Mizerska-wasiak, Malgorzata, Rogowska-kalisz, Anna, Gadomskaprokop, Katarazyna, Wasilewska, Anna, Zawadziki, Jan, Pawlaczyk, Krzysztof ORCID: 0000-0001-6237-0814, Kiryluk, Krysztof, Vargas-poussou, Rosa, Bichet, Daniel, Beck, Bodo, Ludwig, Michael, Konrad, Martin and Sikora, Przemyslaw (2014). Genetic Registry Of Inherited Tubulopathies In Poland. Pediatr. Nephrol., 29 (9). S. 1672 - 1673. NEW YORK: SPRINGER. ISSN 1432-198X

van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F. (2018). A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia. Nephron, 139 (4). S. 359 - 367. BASEL: KARGER. ISSN 2235-3186