Universität zu Köln

Journal Article

Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A. ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm (2016). Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int., 89 (2). S. 468 - 476. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Breiderhoff, Tilman ORCID: 0000-0002-1676-7498, Himmerkus, Nina ORCID: 0000-0002-2910-6728, Meoli, Luca ORCID: 0000-0002-9853-2624, Fromm, Anja, Sewerin, Sebastian ORCID: 0000-0002-9094-9636, Kriuchkova, Natalia ORCID: 0000-0002-9795-2440, Nagel, Oliver ORCID: 0000-0003-1434-726X, Ladilov, Yury ORCID: 0000-0002-9836-8801, Krug, Susanne M., Quintanova, Catarina ORCID: 0000-0001-6617-2006, Stumpp, Meike ORCID: 0000-0001-7765-2996, Garbe-Schoenberg, Dieter, Westernstroeer, Ulrike, Merkel, Cosima, Brinkhus, Merle Annette, Altmuller, Janine ORCID: 0000-0003-4372-1521, Schweiger, Michal R., Muller, Dominik, Mutig, Kerim, Morawski, Markus, Halbritter, Jan ORCID: 0000-0002-1377-9880, Milatz, Susanne ORCID: 0000-0001-9893-0473, Bleich, Markus ORCID: 0000-0002-1745-2295 and Guenzel, Dorothee (2022). Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution. J. Am. Soc. Nephrol., 33 (4). S. 699 - 718. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Scheeler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Shril, Shirlee, Korber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung ORCID: 0000-0002-8741-6177 and Hildebrandt, Friedhelm (2019). Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. Am. J. Hum. Genet., 104 (1). S. 45 - 55. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Knaup, Karl X., Hackenbeck, Thomas, Popp, Bernt ORCID: 0000-0002-3679-1081, Stoeckert, Johanna, Wenzel, Andrea, Buettner-Herold, Maike, Pfister, Frederick, Schueler, Markus, Seven, Didem, May, Annette M., Halbritter, Jan, Groene, Hermann-Josef, Reis, Andre ORCID: 0000-0002-6301-6363, Beck, Bodo B., Amann, Kerstin, Ekici, Arif B. and Wiesener, Michael S. (2018). Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J. Am. Soc. Nephrol., 29 (9). S. 2298 - 2310. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450