Universität zu Köln

2022

Yu, Chih-Chuan, Lee, An-Fu, Kohl, Stefen, Lin, Ming-Yen, Cheng, Siao Muk, Hung, Chi-Chih, Chang, Jer-Ming, Chiu, Yi-Wen, Hwang, Shang-Jyh, Otto, Edgar A., Hildebrandt, Friedhelm and Hwang, Daw-Yang (2022). PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. npj Genom. Med., 7 (1). BERLIN: NATURE PORTFOLIO. ISSN 2056-7944

2021

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

2019

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

Kause, Franziska ORCID: 0000-0002-0074-8962, Zhang, Rong, Ludwig, Michael, Schmiedeke, Eberhard, Rissmann, Anke, Thiele, Holger, Altmueller, Janine, Herms, Stefan, Hilger, Mina C., Hildebrandt, Friedhelm and Reutter, Heiko (2019). HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum. Birth Defects Res., 111 (10). S. 591 - 598. HOBOKEN: WILEY. ISSN 2472-1727

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida ORCID: 0000-0002-4463-3067, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex, V, Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P. and Sefiani, Abdelaziz (2019). Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat. Commun., 10. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

2018

Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan ORCID: 0000-0003-3377-7599, Asif, Maria, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Daga, Ankana, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman ORCID: 0000-0001-9802-6783, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung ORCID: 0000-0002-8741-6177, Warejko, Jillian K., Hermle, Tobias ORCID: 0000-0002-0441-7749, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroglu, Erkin ORCID: 0000-0002-6863-8866, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nuernberg, Peter, Khokha, Mustafa K. and Hildebrandt, Friedhelm (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J. Clin. Invest., 128 (10). S. 4313 - 4329. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Kolvenbach, Caroline M., Frese, Sandra K., Dworschak, Gabriel C., Japp, Anna, Schmidt, Johanna M., Zaniew, Martin, Newman, William, Beaman, Glenda, Stuart, Helen, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Cervellione, Raimondo, Roesch, Wolfgang, Weber, Stefanie, Merz, Waldtraut, Hildebrandt, Friedhelm, Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Lanine, Berg, Christoph, Ludwig, Michael, Grote, Philipp, Renner, Heiko, Odermatt, Benjamin and Hilger, Alina C. (2018). MUTATIONS IN BNC2 LEAD TO AUTOSOMAL-DOMINANT LOWER URINARY TRACT OBSTRUCTION (LUTO). Pediatr. Nephrol., 33 (10). S. 1809 - 1811. NEW YORK: SPRINGER. ISSN 1432-198X

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

van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor ORCID: 0000-0002-3377-1245, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen ORCID: 0000-0002-8942-1973, Lu, Weining ORCID: 0000-0002-6570-3044, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund and Hildebrandt, Friedhelm (2018). A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxy. PLoS One, 13 (1). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

2017

Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Chen, Jing, Shril, Shirlee, Schulz, Julian, van der Ven, Annelle, Daouk, Ghaleb, Soliman, Neveen A., Kumar, Aravind Selvin, Senguttuvan, Prabha, Kehinde, Elijah O., Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hildebrandt, Friedhelm (2017). Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J. Am. Soc. Nephrol., 28 (1). S. 69 - 76. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

2016

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

Kohl, Stefan, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Shril, Shirlee, Dworschak, Gabriel C., Van der Ven, Amelie, Sanna-Cherchi, Simone, Bauer, Stuart B., Lee, Richard S., Soliman, Neveen A., Kehinde, Elijah O., Reutter, Heiko M., Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hildebrandt, Friedhelm (2016). Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. Nephrol. Dial. Transplant., 31 (8). S. 1280 - 1284. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

2014

Gee, Heon Yung ORCID: 0000-0002-8741-6177, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm (2014). Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int., 85 (4). S. 880 - 888. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

2011

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

2010

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