Items where Author or Editor is "Bergmann, Carsten" - Kölner UniversitätsPublikationsServer

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Number of items: 49.

Journal Article

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

Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus (2011). Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease. J. Am. Soc. Nephrol., 22 (11). S. 2047 - 2057. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1046-6673

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

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

Bolz, Hanno Joern, Kron, Anja, Eisenberger, Tobias, Decker, Christian, Seipel, Barbara, Kraus, Cornelia, Bergmann, Carsten and Neuhaus, Christine (2014). Targeted NGS Incidentally Reveals Klinefelter Syndrome in a Patient with X-Linked Recessive Retinitis Pigmentosa and Skewed X Inactivation. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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

Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian ORCID: 0000-0002-2768-1702, Feldkoetter, Markus, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Gokce, Ibrahim ORCID: 0000-0002-6896-5162, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa ORCID: 0000-0002-0702-4932, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Late, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata ORCID: 0000-0001-6613-1642, Tabel, Yilmaz, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Testa, Sara, Thumfart, Julia ORCID: 0000-0003-1162-5295, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2018). Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J. Pediatr., 199. S. 22 - 35. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833

Busch, Jutta, Frank, Valeska, Bachmann, Nadine, Otsuka, Atoshi, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Metze, Dieter, Shah, Krati, Danda, Sumita, Watzer, Bernhard, Traupe, Heiko, Bolz, Hanno J., Kabashima, Kenji ORCID: 0000-0002-0773-0554 and Bergmann, Carsten (2012). Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing. J. Invest. Dermatol., 132 (10). S. 2473 - 2477. NEW YORK: NATURE PUBLISHING GROUP. ISSN 0022-202X

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal, Schaefer, Franz and Mekahli, Djalila (2017). CAREGIVERS' ATTITUDE TOWARDS FAMILY PLANNING AND TIMING OF DIAGNOSIS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Pediatr. Nephrol., 32 (9). S. 1757 - 1759. NEW YORK: SPRINGER. ISSN 1432-198X

De Rechter, Stephanie, Kringen, Jonathan, Janssens, Peter, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Devriendt, Koenraad, Levtchenko, Elena, Bergmann, Carsten, Jouret, Francois, Bammens, Bert ORCID: 0000-0002-2477-2633, Borry, Pascal ORCID: 0000-0002-4931-9560, Schaefer, Franz and Mekahli, Djalila ORCID: 0000-0003-0954-6088 (2017). Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease. PLoS One, 12 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Dursun, Ismail, Duzova, Ali, Galiano, Matthias, Gessner, Michaela, Goebel, Heike, Goekce, Ibrahim, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Kunzmann, Kevin, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Massella, Laura, Mekahli, Djalila, Melek, Engin, Miklaszewska, Monika, Ranchin, Bruno, Sander, Anja, Shroff, Rukshana, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota, Yuzbasioglu, Ayse, Zachwieja, Katarzyna, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2017). CHARACTERIZATION OF POTENTIAL RISK MARKERS OF THE RENAL ARPKD PHENOTYPE. Pediatr. Nephrol., 32 (9). S. 1768 - 1770. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2015). AREGPKD - A EUROPEAN ARPKD REGISTRY STUDY. Pediatr. Nephrol., 30 (9). S. 1673 - 1675. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2015). Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2369

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

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Muerbe, Dirk, Decker, Christian, Bergmann, Carsten and Bolz, Hanno J. (2014). Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the DFNA48 Gene, as a Cause of Deafness. Hum. Mutat., 35 (5). S. 565 - 571. HOBOKEN: WILEY. ISSN 1098-1004

Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J. (2013). Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Fehrenbach, Henry, Decker, Christian, Eisenberger, Tobias, Frank, Valeska, Hampel, Tobias, Walden, Ulrike, Amann, Kerstin U., Krueger-Stollfuss, Ingrid, Bolz, Hanno J., Haeffner, Karsten, Pohl, Martin and Bergmann, Carsten (2014). Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr. Nephrol., 29 (8). S. 1451 - 1457. NEW YORK: SPRINGER. ISSN 1432-198X

Galvez-Ruiz, Alberto, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno (2013). First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations. J. Neuro-Ophthal., 33 (4). S. 354 - 359. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1536-5166

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

Gimpel, Charlotte, Bergmann, Carsten, Brinkert, Florian, Cetiner, Metin, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Haffner, Dieter, Kemper, Markus, Koenig, Jens, Liebau, Max, Maier, Rolf Felix, Oh, Jun, Pape, Lars, Riechardt, Silke, Rolle, Udo ORCID: 0000-0002-1268-6092, Rossi, Rainer, Stegmann, Joachim, Vester, Udo, von Kaisenberg, Constantin, Weber, Stefanie and Schaefer, Franz (2020). Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies. Klinische Padiatr., 232 (5). S. 228 - 249. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3824

Guay-Woodford, Lisa M., Bissler, John J., Braun, Michael C., Bockenhauer, Detlef ORCID: 0000-0001-5878-941X, Cadnapaphornchai, Melissa A., Dell, Katherine M., Kerecuk, Larissa, Liebau, Max C., Alonso-Peclet, Maria H., Shneider, Benjamin, Emre, Sukru, Heller, Theo, Kamath, Binita M., Murray, Karen F., Moise, Kenneth, Eichenwald, Eric E., Evans, Jacquelyn, Keller, Roberta L., Wilkins-Haug, Louise, Bergmann, Carsten, Gunay-Aygun, Meral, Hooper, Stephen R., Hardy, Kristina K., Hartung, Erum A., Streisand, Randi, Perrone, Ronald and Moxey-Mims, Marva ORCID: 0000-0001-8542-9313 (2014). Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference. J. Pediatr., 165 (3). S. 611 - 618. NEW YORK: MOSBY-ELSEVIER. ISSN 1097-6833

Habbig, Sandra, Bartram, Malte P., Saegmueller, Josef G., Griessmann, Anabel, Franke, Mareike, Mueller, Roman-Ulrich, Schwarz, Ricarda, Hoehne, Martin, Bergmann, Carsten, Tessmer, Claudia, Reinhardt, H. Christian, Burst, Volker, Benzing, Thomas and Schermer, Bernhard ORCID: 0000-0002-5194-9000 (2012). The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. Hum. Mol. Genet., 21 (26). S. 5528 - 5539. OXFORD: OXFORD UNIV PRESS. ISSN 0964-6906

Habbig, Sandra, Bergmann, Carsten and Weber, Lutz T. (2016). Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH. Am. J. Kidney Dis., 67 (3). S. 532 - 536. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1523-6838

Haumann, Sophie, Burgmaier, Kathrin, Bergmann, Carsten, Mueller, Roman Ulrich and Liebau, Max C. (2018). Hereditary cystic kidney diseases: autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD). Med. Genet., 30 (4). S. 422 - 429. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

Khan, Arif O., Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno J. (2016). Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol., 100 (2). S. 209 - 216. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Al-Mesfer, Saleh, Al-Turkmani, Shahira, Bergmann, Carsten and Bolz, Hanno J. (2014). Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. Br. J. Ophthalmol., 98 (12). S. 1724 - 1729. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Bergmann, Carsten, Eisenberger, Tobias and Bolz, Hanno J. (2015). A TULP1 founder mutation, p.GIn301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. Br. J. Ophthalmol., 99 (4). S. 488 - 493. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Bergmann, Carsten, Neuhaus, Christine and Bolz, Hanno J. (2015). A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations. Ophthalmic Genet., 36 (1). S. 79 - 85. LONDON: INFORMA HEALTHCARE. ISSN 1744-5094

Khan, Arif O., Bolz, Hanno J. and Bergmann, Carsten (2014). Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. J. AAPOS, 18 (2). S. 203 - 206. NEW YORK: MOSBY-ELSEVIER. ISSN 1528-3933

Khan, Arif O., Bolz, Hanno J. and Bergmann, Carsten (2014). Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. J. AAPOS, 18 (2). S. 134 - 140. NEW YORK: MOSBY-ELSEVIER. ISSN 1528-3933

Khan, Arif O., Decker, Eva, Bachmann, Nadine, Bolz, Hanno J. and Bergmann, Carsten (2016). C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet., 37 (3). S. 290 - 294. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Nagl, Sandra, Bergmann, Carsten and Bolz, Hanno J. (2014). Limited Ocular Motility in a Child With 3q23 Microdeletion (Blepharophimosis Syndrome Plus). J. Pediatr. Ophthalmol. Strabismus., 51. S. E51 - 4. THOROFARE: SLACK INC. ISSN 1938-2405

Koehler, Sybille, Odenthal, Johanna, Ludwig, Vivian, Jess, David Unnersjo, Hoehne, Martin, Juengst, Christian, Grawe, Ferdi, Helmstaedter, Martin, Janku, Johanna L., Bergmann, Carsten, Hoyer, Peter F., Hagmann, H. Henning, Walz, Gerd, Bloch, Wilhelm, Niessen, Carien, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Wodarz, Andreas, Denholm, Barry, Benzing, Thomas ORCID: 0000-0003-0512-1066, Iden, Sandra and Brinkkoetter, Paul T. (2022). Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier. Kidney Int., 101 (4). S. 733 - 752. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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

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

Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genet., 42 (10). S. 840 - 853. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Rinschen, Markus M., Goedel, Markus, Grahammer, Florian, Zschiedrich, Stefan, Helmstaedter, 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 ORCID: 0000-0002-5194-9000, Kuettner, Victoria, Boerries, Melanie, Busch, Hauke ORCID: 0000-0003-4763-4521, Schiffer, Mario ORCID: 0000-0002-8414-1470, Bergmann, Carsten, Krueger, Marcus ORCID: 0000-0003-2008-4582, Hildebrandt, Friedhelm, Dengjel, Joern ORCID: 0000-0002-9453-4614, Benzing, Thomas and Huber, Tobias B. ORCID: 0000-0001-7175-5062 (2018). A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Reports, 23 (8). S. 2495 - 2509. CAMBRIDGE: CELL PRESS. ISSN 2211-1247

Schalk, Gesa, Ehren, Rasmus, Vierzig, Anne, Kirschfink, Michael, Bergmann, Carsten, Hoppe, Bernd and Weber, Lutz Thorsten (2014). A Complicated Case Of Atypical Hemolytic Uremic Syndrom With Frequent Relapses Under Eculizumab. Pediatr. Nephrol., 29 (9). S. 1818 - 1819. NEW YORK: SPRINGER. ISSN 1432-198X

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

Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nuernberg, Gudrun, Nuernberg, Peter, Steel, Karen P., Knipper, Marlies and Bolz, Hanno Joern (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J. Rare Dis., 10. LONDON: BMC. ISSN 1750-1172

Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele ORCID: 0000-0003-4788-9719, Zara, Federico ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kupper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger ORCID: 0000-0001-7774-5025, Nurnberg, Peter, Nurnberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaser, Dieter, Huttel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark ORCID: 0000-0003-1985-3671 and Senderek, Jan (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain, 144 (5). S. 1422 - 1435. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana ORCID: 0000-0001-8939-1447, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Bilguvar, Kaya, Hamed, Sherifa ORCID: 0000-0002-1441-3530, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele ORCID: 0000-0003-4788-9719, Zara, Federico ORCID: 0000-0001-9744-5222, Salpietro, Vincenzo, Scala, Marcello ORCID: 0000-0003-2194-7239, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger ORCID: 0000-0001-7774-5025, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita ORCID: 0000-0002-9841-170X, Houlden, Henry, Bartesaghi, Luca ORCID: 0000-0001-8218-4648, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark ORCID: 0000-0003-1985-3671 and Senderek, Jan (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain, 144. S. 1422 - 1435. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Ziegler, Wolfgang H. ORCID: 0000-0003-4529-1916, Luediger, Sarah, Hassan, Fatima, Georgiadis, Margarita E., Swolana, Kathrin, Khera, Amrit, Mertens, Arne, Franke, Doris, Wohlgemuth, Kai, Dahmer-Heath, Mareike ORCID: 0000-0002-1667-7820, Koenig, Jens, Dafinger, Claudia, Liebau, Max C., Cetiner, Metin, Bergmann, Carsten, Soetje, Birga ORCID: 0000-0002-6724-1314 and Haffner, Dieter (2022). Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases. Orphanet J. Rare Dis., 17 (1). LONDON: BMC. ISSN 1750-1172

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