Universität zu Köln

Journal Article

Arthuis, Chloe J., Nizon, Mathilde, Koemhoff, Martin, Beck, Bodo B., Riehmer, Vera, Bihouee, Tiphaine, Bruel, Alexandra, Benbrik, Nadir, Winer, Norbert and Isidor, Bertrand (2019). A step towards precision medicine in management of severe transient polyhydramnios: MAGED2 variant. J. Obstet. Gynaecol., 39 (3). S. 395 - 398. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1364-6893

Bartram, Malte P., Habbig, Sandra, Pahmeyer, Caroline, Hoehne, Martin, Weber, Lutz T., Thiele, Holger, Altmueller, Janine, Kottoor, Nina, Wenzel, Andrea, Krueger, Marcus ORCID: 0000-0003-2008-4582, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Rinschen, Markus M. and Beck, Bodo B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum. Mol. Genet., 25 (6). S. 1152 - 1165. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Bartram, Malte P., Mishra, Tripti, Reintjes, Nadine, Fabretti, Francesca, Gharbi, Hakam, Adam, Alexander C., Goebel, Heike, Franke, Mareike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Haneder, Stefan, Benzing, Thomas, Beck, Bodo B. and Mueller, Roman-Ulrich (2017). Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. BMC Med. Genet., 18. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2350

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

Beck, Bodo B., Trachtman, Howard ORCID: 0000-0001-7447-9489, Gitman, Michael, Miller, Ilene, Sayer, John A. ORCID: 0000-0003-1881-3782, Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm and Wolf, Matthias T. F. (2011). Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD. Am. J. Kidney Dis., 58 (5). S. 821 - 826. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 0272-6386

Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan ORCID: 0000-0001-9239-1050, Berger, Rolf M. F. and Komhoff, Martin ORCID: 0000-0002-6499-5313 (2017). Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. Pediatr. Nephrol., 32 (5). S. 733 - 742. NEW YORK: SPRINGER. ISSN 1432-198X

Belostotsky, Ruth, Lyakhovetsky, Roman, Sherman, Michael Y., Shkedy, Fanny, Tzvi-Behr, Shimrit, Bar, Roi, Hoppe, Bernd, Reusch, Bjoern, Beck, Bodo B. and Frishberg, Yaacov (2018). Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria. J. Mol. Med., 96 (7). S. 621 - 631. NEW YORK: SPRINGER. ISSN 1432-1440

Birtel, Johannes, Diederen, Roselie M., Herrmann, Philipp, Kaspar, Sophie ORCID: 0000-0002-0844-6432, Beck, Bodo B., Garrelfs, Sander F., Hoppe, Bernd and Issa, Peter Charbel (2023). The retinal phenotype in primary hyperoxaluria type 2 and 3. Pediatr. Nephrol., 38 (5). S. 1485 - 1491. NEW YORK: SPRINGER. ISSN 1432-198X

Birtel, Johannes, Spital, Georg, Book, Marius ORCID: 0000-0002-5178-8673, Habbig, Sandra, Baeumner, Soeren, Riehmer, Vera, Beck, Bodo B., Rosenkranz, David, Bolz, Hanno J., Dahmer-Heath, Mareike ORCID: 0000-0002-1667-7820, Herrmann, Philipp, Koenig, Jens and Issa, Peter Charbel (2021). NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney Int., 100 (5). S. 1092 - 1101. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Boeckhaus, Jan, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Nagel, Mato, Beck, Bodo B., Choi, Mira, Gollasch, Maik, Bergmann, Carsten, Sonntag, Joseph E., Troesch, Victoria, Stock, Johanna and Gross, Oliver ORCID: 0000-0002-8390-8852 (2022). Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study. Nephrol. Dial. Transplant., 37 (12). S. 2496 - 2505. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

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

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

Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Baerbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Patzer, Ludwig, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wuehl, Elke, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2021). Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int., 100 (3). S. 650 - 660. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Butt, Linus, Unnersjoe-Jess, David, Hohne, Martin, Edwards, Aurelie, Binz-Lotter, Julia, Reilly, Dervla, Hahnfeldt, Robert, Ziegler, Vera, Fremter, Katharina, Rinschen, Markus M., Helmstaedter, Martin, Ebert, Lena K., Castrop, Hayo, Hackl, Matthias J., Walz, Gerd, Brinkkoetter, Paul T., Liebau, Max C., Tory, Kalman, Hoyer, Peter F., Beck, Bodo B., Brismar, Hjalmar, Blom, Hans, Schermer, Bernhard and Benzing, Thomas (2020). A molecular mechanism explaining albuminuria in kidney disease. Nat. Metab., 2 (5). S. 461 - 484. BERLIN: NATURE RESEARCH. ISSN 2522-5812

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

Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J. S., Cochat, Pierre, Deschenes, Georges, Harambat, Jerome, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan ORCID: 0000-0002-6423-0927, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W. and Bacchetta, Justine (2022). Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry. Kidney Int. Rep., 7 (7). S. 1608 - 1619. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Ebner, Kathrin, Dafinger, Claudia, Ortiz-Bruechle, Nadina, Koerber, Friederike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Doetsch, Joerg, Zerres, Klaus, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr. Nephrol., 32 (7). S. 1269 - 1274. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Reintjes, Nadine, Feldkoetter, Markus, Koerber, Friederike, Nagel, Mato, Doetsch, Joeg, Hoppe, Bernd, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin. Nephrol., 88 (1). S. 45 - 52. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Ekici, Arif B., Hackenbeck, Thomas, Moriniere, Vincent ORCID: 0000-0003-1795-222X, Panness, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B. ORCID: 0000-0001-7175-5062, Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, Andre ORCID: 0000-0002-6301-6363, Eckardt, Kai-Uwe and Wiesener, Michael S. (2014). Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int., 86 (3). S. 589 - 600. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Erger, Florian ORCID: 0000-0002-2768-1702 and Beck, Bodo B. (2021). A new era of treatment for primary hyperoxaluria type 1. Nat. Rev. Nephrol., 17 (9). S. 573 - 575. BERLIN: NATURE PORTFOLIO. ISSN 1759-507X

Erger, Florian ORCID: 0000-0002-2768-1702, Noerling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2020). cfNOMe- A single assay for comprehensive epigenetic analyses of cell-free DNA. Genome Med., 12 (1). LONDON: BMC. ISSN 1756-994X

Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea ORCID: 0000-0002-6398-3919, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Koentges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B. and Habbig, Sandra (2021). Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling. Kidney Int. Rep., 6 (5). S. 1368 - 1379. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Garrelfs, Sander F., Rumsby, Gill, Peters-Sengers, Hessel ORCID: 0000-0003-3145-864X, Erger, Florian ORCID: 0000-0002-2768-1702, Groothoff, Jaap W., Beck, Bodo B., Oosterveld, Michiel J. S., Pelle, Alessandra, Neuhaus, Thomas, Adams, Brigitte, Cochat, Pierre, Salido, Eduardo, Lipkin, Graham W., Hoppe, Bernd and Hulton, Sally-Anne (2019). Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int., 96 (6). S. 1389 - 1400. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Hackl, Agnes, Ehren, Rasmus, Kirschfink, Michael, Zipfel, Peter F., Beck, Bodo B., Weber, Lutz T. and Habbig, Sandra (2017). Successful discontinuation of eculizumab under immunosuppressive therapy in DEAP-HUS. Pediatr. Nephrol., 32 (6). S. 1081 - 1088. NEW YORK: SPRINGER. ISSN 1432-198X

Hackl, Agnes, Mehler, Katrin, Gottschalk, Ingo, Vierzig, Anne, Eydam, Marcus, Hauke, Jan, Beck, Bodo B., Liebau, Max C., Ensenauer, Regina, Weber, Lutz T. and Habbig, Sandra (2017). Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr. Nephrol., 32 (5). S. 791 - 801. NEW YORK: SPRINGER. ISSN 1432-198X

Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Roesler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmueller, Janine, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter, Hahnen, Eric and Beck, Bodo B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS One, 8 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Hoefele, Julia ORCID: 0000-0002-7917-7129, Beck, Bodo B., Weber, Lutz T. and Brinkkoetter, Paul ORCID: 0000-0002-4287-2080 (2018). Steroid-resistent nephrotic syndrome. Med. Genet., 30 (4). S. 410 - 422. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Hoehne, Martin, Frese, Christian K., Grahammer, Florian, Dafinger, Claudia, Ciarimboli, Giuliano, Butt, Linus, Binz, Julia, Hackl, Matthias J., Rahmatollahi, Mahdieh, Kann, Martin, Schneider, Simon, Altintas, Mehmet M., Schermer, Bernhard ORCID: 0000-0002-5194-9000, Reinheckel, Thomas ORCID: 0000-0001-9866-9105, Goebel, Heike, Reiser, Jochen, Huber, Tobias B. ORCID: 0000-0001-7175-5062, Kramann, Rafael, Seeger-Nukpezah, Tamina, Liebau, Max C., Beck, Bodo B., Benzing, Thomas, Beyer, Andreas ORCID: 0000-0002-3891-2123 and Rinschen, Markus M. (2018). Single-nephron proteomes connect morphology and function in proteinuric kidney disease. Kidney Int., 93 (6). S. 1308 - 1320. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Hoyer-Kuhn, Heike, Kohbrok, Sina, Volland, Ruth, Franklin, Jeremy ORCID: 0000-0003-1536-0925, Hero, Barbara, Beck, Bodo B. and Hoppe, Bernd (2014). Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice. Clin. J. Am. Soc. Nephrol., 9 (3). S. 468 - 478. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1555-905X

Hutzfeldt, Arvid D., Tan, Yifan ORCID: 0000-0002-7322-297X, Bonin, Lena Lydie, Beck, Bodo B., Baumbach, Jan ORCID: 0000-0002-0282-0462, Lass, Moritz, Demir, Fatih ORCID: 0000-0002-5744-0205 and Rinschen, Markus M. (2022). Consensus draft of the native mouse podocyte-ome. Am. J. Physiol.-Renal Physiol., 323 (2). S. F182 - 16. Rockville: AMER PHYSIOLOGICAL SOC. ISSN 1522-1466

Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Pannes, Andrea, Schlingmann, Karl Peter, Eckardt, Kai-Uwe, Beck, Bodo B. and Wiesener, Michael S. (2015). Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. Kidney Blood Pressure Res., 40 (5). S. 443 - 452. BASEL: KARGER. ISSN 1423-0143

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

Koehler, Sybille, Kuczkowski, Alexander, Kuehne, Lucas, Juengst, Christian, Hoehne, Martin, Grahammer, Florian, Eddy, Sean ORCID: 0000-0001-8578-3443, Kretzler, Matthias, Beck, Bodo B., Hoehfeld, Joerg, Schermer, Bernhard, Benzing, Thomas, Brinkkoetter, Paul T. and Rinschen, Markus M. (2020). Proteome Analysis of Isolated Podocytes Reveals Stress Responses in Glomerular Sclerosis. J. Am. Soc. Nephrol., 31 (3). S. 544 - 560. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

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

Kolbuc, Marcin, Bienias, Beata, Habbig, Sandra, Kolek, Mateusz F., Szczepanska, Maria ORCID: 0000-0002-6772-1983, Kilis-Pstrusinska, Katarzyna ORCID: 0000-0001-7352-6992, Wasilewska, Anna, Adamczyk, Piotr, Motyka, Rafal, Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Beck, Bodo B. and Zaniew, Marcin (2021). Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J. Clin. Med., 10 (15). BASEL: MDPI. ISSN 2077-0383

Kolbuc, Marcin, Lessmeier, Lennart, Salamon-Slowinska, Dorota, Malecka, Ilona, Pawlaczyk, Krzysztof, Walkowiak, Jaroslaw, Wysocki, Jacek, Beck, Bodo B. and Zaniew, Marcin (2020). Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr. Nephrol., 35 (10). S. 1877 - 1887. NEW YORK: SPRINGER. ISSN 1432-198X

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

Lagies, Ruth, Beck, Bodo B., Hoppe, Bernd, Sheta, Sahar S., Weiss, Verena, Sreeram, Narayanswami and ten Cate, Floris E. A. Udink (2015). Inhomogeneous Longitudinal Cardiac Rotation and Impaired Left Ventricular Longitudinal Strain in Children and Young Adults with End-Stage Renal Failure Undergoing Hemodialysis. Echocardiography-J. Cardiovasc. Ultrasound Allied Tech., 32 (8). S. 1250 - 1261. HOBOKEN: WILEY. ISSN 1540-8175

Lagies, Ruth, ten Cate, Floris E. A. Udink, Feldkoetter, Markus, Beck, Bodo B., Sreeram, Narayanswami, Hoppe, Bernd and Herberg, Ulrike ORCID: 0000-0002-9386-0258 (2019). Subclinical myocardial disease in patients with primary hyperoxaluria and preserved left ventricular ejection fraction: a two-dimensional speckle-tracking imaging study. Pediatr. Nephrol., 34 (12). S. 2591 - 2601. NEW YORK: SPRINGER. ISSN 1432-198X

Mandrile, Giorgia ORCID: 0000-0003-0849-2225, van Woerden, Christiaan S., Berchialla, Paola ORCID: 0000-0001-5835-5638, Beck, Bodo B., Bourdain, Cecile Acquaviva, Hulton, Sally-Anne and Rumsby, Gill (2014). Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int., 86 (6). S. 1197 - 1205. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1755

Martin-Higueras, Cristina ORCID: 0000-0003-1139-4642, Garrelfs, Sander F., Groothoff, Jaap W., Jacob, Dorrit E., Moochhala, Shabbir H., Bacchetta, Justine, Acquaviva, Cecile, Zaniew, Marcin, Sikora, Przymyslaw, Beck, Bodo B. and Hoppe, Bernd (2021). A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int., 100 (3). S. 621 - 636. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Meeser, Alina, Beck, Bodo B., Duebbers, Martin, Habbig, Sandra, Kobe, Carsten, Koerber, Friederike, Doetsch, Joerg, Nuesken, Kai-Dietrich, Weber, Lutz T., Landgraf, Pablo, DeCarolis, Boris and Liebau, Max C. (2021). Arterial Hypertension in a 10-Year-Old Girl. Am. J. Kidney Dis., 77 (3). PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1523-6838

Mehler, Katrin, Beck, Bodo B., Kaul, Ingrid, Rahimi, Gohar, Hoppe, Bernd and Kribs, Angela (2011). Respiratory and general outcome in neonates with renal oligohydramnios-a single-centre experience. Nephrol. Dial. Transplant., 26 (11). S. 3514 - 3524. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel ORCID: 0000-0003-3145-864X, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschenes, Georges, Franssen, Casper ORCID: 0000-0003-1004-9994, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel Js, Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre and Groothoff, Jaap W. (2022). Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry. Kidney Int. Rep., 7 (2). S. 210 - 221. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

Motyka, Rafal, Kolbuc, Marcin, Wierzcholowski, Wojciech, Beck, Bodo B., Towpik, Iwona Ewa and Zaniew, Marcin (2021). Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland. Am. J. Case Rep., 22. MELVILLE: INT SCIENTIFIC INFORMATION, INC. ISSN 1941-5923

Nie, Mingzhu, Bal, Manjot S., Yang, Zhufeng, Liu, Jie, Rivera, Carolina, Wenzel, Andrea, Beck, Bodo B., Sakhaee, Khashayar, Marciano, Denise K. and Wolf, Matthias T. F. (2016). Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients. J. Am. Soc. Nephrol., 27 (11). S. 3447 - 3459. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Odenthal, Johanna, Dittrich, Sebastian, Ludwig, Vivian, Merz, Tim, Reitmeier, Katrin, Reusch, Bjoern, Hoehne, Martin, Cosgun, Zuelfue C., Hohenadel, Maximilian, Putnik, Jovana, Goebel, Heike, Rinschen, Markus M., Altmueller, Janine, Koehler, Sybille, Schermer, Bernhard, Benzing, Thomas ORCID: 0000-0003-0512-1066, Beck, Bodo B., Brinkkoetter, Paul T., Habbig, Sandra and Bartram, Malte P. (2022). Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes. Kidney Int. Rep., 8 (2). S. 317 - 330. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

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

Reusch, Bjorn, Bartram, Malte P., Dafinger, Claudia, Palacio-Escat, Nicolas ORCID: 0000-0002-7022-1437, Wenzel, Andrea, Fenton, Robert A., Saez-Rodriguez, Julio ORCID: 0000-0002-8552-8976, Schermer, Bernhard, Benzing, Thomas, Altmueller, Janine, Beck, Bodo B. and Rinschen, Markus M. (2022). MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells. J. Proteomics, 252. AMSTERDAM: ELSEVIER. ISSN 1876-7737

Riedhammer, Korbinian M., Stippel, Michaela, GUenthner, Roman, Braunisch, Matthias C., Herr, Pierre Maurice, Macheroux, Eva Pauline, Beck, Bodo B., Satanovskij, Robin, Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hoefele, Julia ORCID: 0000-0002-7917-7129 (2018). FREQUENCY OF PATHOGENIC VARIANTS IN A MUNICH CAKUT COHORT. Pediatr. Nephrol., 33 (10). S. 1821 - 1822. NEW YORK: SPRINGER. ISSN 1432-198X

Riehmer, Vera, Erger, Florian ORCID: 0000-0002-2768-1702, Herkenrath, Peter, Seland, Saskia, Jackels, Miriam, Wiater, Alfred, Heller, Raoul, Beck, Bodo B. and Netzer, Christian (2017). A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome. Am. J. Med. Genet. A, 173 (8). S. 2132 - 2139. HOBOKEN: WILEY. ISSN 1552-4833

Rinschen, Markus M., Bartram, Malte, Benzing, Thomas and Beck, Bodo B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation reveals its pathogenic potential in FSGS. Faseb J., 30. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Schalk, Gesa, Habbig, Sandra, Beck, Bodo B., Licht, Christoph, Hoppe, Bernd and Weber, Lutz T. (2015). Plasmatherapy - Still first line treatment in atypical hemolytic uremic syndrome? Long-term follow-up of four patients. Mol. Immunol., 67 (1). S. 177 - 179. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 0161-5890

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

Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin . Nephropathic cystinosis in Poland a 40-year retrospective study. Pol. Intern. Med.. KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin (2022). Nephropathic cystinosis in Poland: a 40-year retrospective study. Pol. Intern. Med., 132 (11). KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Sikora, Przemyslaw, Zaniew, Marcin, Grenda, Ryszard, Jobs, Katarzyna, Rubik, Jacek, Zawadzki, Jan, Myslak, Marek, Durlik, Magdalena, Erger, Florian, Bienias, Beata, Hoppe, Bernd and Beck, Bodo B. (2020). Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland. Pol. Intern. Med., 130 (12). S. 1053 - 1064. KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Staubach, Simon, Wenzel, Andrea, Beck, Bodo B., Rinschen, Markus M., Mueller, Stefan and Hanisch, Franz-Georg (2018). Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells. Proteomics, 18 (7). HOBOKEN: WILEY. ISSN 1615-9861

Taylan, Christina, Goebel, Heike, Beck, Bodo B., Doesch, Joeg, Nuesken, Kai D., Hoppe, Bernd, Weber, Lutz T. and Liebau, Max C. (2016). Anuria on the Second Day Following Kidney Transplantation DISCUSSION. Am. J. Kidney Dis., 68 (6). S. XX - 2. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1523-6838

Taylan, Christina, Wenzel, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Goebel, Heike, Weber, Lutz T. and Beck, Bodo B. (2020). Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease. Front. Pediatr., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Gadomska-Prokop, Katarzyna, Zaluska-Lesniewska, Iga, Musial, Kinga ORCID: 0000-0002-9000-7585, Zawadzki, Jan, Jobs, Katarzyna ORCID: 0000-0002-8616-2347, Porowski, Tadeusz, Rogowska-Kalisz, Anna, Jander, Anna ORCID: 0000-0003-1363-091X, Kirolos, Meritrafat, Halinski, Adam ORCID: 0000-0002-0579-8723, Krzemien, Aleksandra, Sobieszczanska-Drozdziel, Agnieszka, Zachwieja, Katarzyna, Beck, Bodo B., Sikora, Przemyslaw ORCID: 0000-0002-5698-6863 and Zaniew, Marcin (2021). Clinical profile of a Polish cohort of children and young adults with cystinuria. Ren. Fail., 43 (1). S. 62 - 71. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1525-6049

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Walsh, Patrick R., McNicholas, Bairbre, Fistrek, Margareta, Habbig, Sandra, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Folz-Donahue, Kat, Kukat, Christian ORCID: 0000-0003-1508-0229, Toliat, Mohammad R., Becker, Christian, Thiele, Holger, Kavanagh, David, Nuernberg, Peter, Beck, Bodo B. and Altmueller, Janine (2022). Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing. J. Mol. Diagn., 24 (6). S. 619 - 632. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1943-7811

Ventzke, Ada, Feldkoetter, Markus, Wei, Andrew, Becker, Jutta, Beck, Bodo B. and Hoppe, Bernd (2017). Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. Pediatr. Nephrol., 32 (12). S. 2263 - 2272. NEW YORK: SPRINGER. ISSN 1432-198X

Ventzke, Ada, Feldkotter, Markus, Wei, Andrew, Becker, Jutta, Beck, Bodo B. and Hoppe, Bernd (2018). Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow up of primary hyperoxaluria type III (vol 32, pg 2263, 2017). Pediatr. Nephrol., 33 (7). S. 1275 - 1277. NEW YORK: SPRINGER. ISSN 1432-198X

Weigert, Alexander, Beck, Bodo B. and Hoppe, Bernd (2018). Genetic kidney stone disesases. Med. Genet., 30 (4). S. 438 - 448. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schuerfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Goedel, Markus, Wiesener, Antje, Popp, Bernt ORCID: 0000-0002-3679-1081, Stark, Klaus J., Groene, Hermann-Josef, Friedrich, Bjoern, Weiss, Martin, Basic-Jukic, Nikolina ORCID: 0000-0002-0221-2758, Schiffer, Mario, Schroeppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Buettner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, Andre, Pasutto, Francesca and Wiesener, Michael S. (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney Int., 102 (2). S. 405 - 421. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Yigit, Goekhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro ORCID: 0000-0002-6878-5081, Sengoku, Toru ORCID: 0000-0001-9461-8714, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nuernberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi and Altmueller, Janine (2020). The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. Hum. Mutat., 41 (3). S. 591 - 600. HOBOKEN: WILEY. ISSN 1098-1004

Zivna, Martina, Kidd, Kendrah, Pristoupilova, Anna ORCID: 0000-0003-0047-9405, Baresova, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor ORCID: 0000-0002-2599-6479, Vrbacka, Alena, Vylet'al, Petr, Zivny, Jan, Votruba, Miroslav, Sovova, Jana, Hulkova, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B., Seeman, Tomas, Viklicky, Ondrej ORCID: 0000-0003-1049-2195, Rajnochova-Bloudickova, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C., Alper, Seth L., Greka, Anna, Bleyer, Anthony J. and Kmoch, Stanislav (2018). Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J. Am. Soc. Nephrol., 29 (9). S. 2418 - 2432. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Zivna, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyletal, Petr ORCID: 0000-0002-9357-1237, Baresova, Veronika, Hodanova, Katerina, Sovova, Jana, Hartmannova, Hana, Votruba, Miroslav, Treslova, Helena, Jedlickova, Ivana, Sikora, Jakub, Hulkova, Helena, Robins, Victoria, Hnizda, Ales, Zivny, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kalman, Haeeffner, Karsten, Wolf, Matthias T. F., Bleyer, Michael E., Sayer, John A., Ong, Albert C. M., Balogh, Lidia, Jakubowska, Anna, Laszkiewicz, Agnieszka ORCID: 0000-0002-0317-4255, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio ORCID: 0000-0003-3875-6869, Scolari, Francesco, Sussman, Amy, Trachtman, Howard ORCID: 0000-0001-7447-9489, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav and Bleyer, Anthony J. (2020). An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int., 98 (6). S. 1589 - 1605. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755