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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
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
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