Universität zu Köln

Journal Article

Becker, Kerstin, Siegert, Sabine, Toliat, Mohammad Reza, Du, Juanjiangmeng, Casper, Ramona, Dolmans, Guido H., Werker, Paul M., Tinschert, Sigrid, Franke, Andre ORCID: 0000-0003-1530-5811, Gieger, Christian ORCID: 0000-0001-6986-9554, Strauch, Konstantin, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Nuernberg, Peter and Hennies, Hans Christian (2016). Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease. PLoS One, 11 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Blume, Felix, Kirsten, Holger ORCID: 0000-0002-3126-7950, Ahnert, Peter ORCID: 0000-0002-1771-0856, Chakraborty, Trinad, Gross, Arnd ORCID: 0000-0002-5961-5507, Horn, Katrin, Toliat, Mohammad Reza, Nurnberg, Peter, Westenfelder, Eva-Maria, Goepel, Wolfgang and Scholz, Markus . Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. Pediatr. Res.. LONDON: SPRINGERNATURE. ISSN 1530-0447

Buyandelger, Byambajav, Mansfield, Catherine ORCID: 0000-0002-5063-5181, Kostin, Sawa, Choi, Onjee, Roberts, Angharad M., Ware, James S., Mazzarotto, Francesco ORCID: 0000-0002-6159-9980, Pesce, Francesco ORCID: 0000-0002-2882-4226, Buchan, Rachel, Isaacson, Rivka L., Vouffo, Josee, Gunkel, Sylvia, Knoll, Gudrun, McSweeney, Sara J., Wei, Heming, Perrot, Andreas ORCID: 0000-0002-8800-342X, Pfeiffer, Conny, Toliat, Mohammad Reza, Ilieva, Kristina, Krysztofinska, Ewelina, Lopez-Olaneta, Marina M., Gomez-Salinero, Jesus M., Schmidt, Albrecht, Ng, Keat-Eng, Teucher, Niels, Chen, Ju, Teichmann, Martin ORCID: 0000-0002-5257-0510, Eilers, Martin ORCID: 0000-0002-0376-6533, Haverkamp, Wilhelm, Regitz-Zagrosek, Vera, Hasenfuss, Gerd, Braun, Thomas ORCID: 0000-0002-6165-4804, Pennell, Dudley J., Gould, Ian, Barton, Paul J. R., Lara-Pezzi, Enrique ORCID: 0000-0002-2743-1033, Schaefer, Sebastian, Huebner, Norbert, Felkin, Leanne E., O'Regan, Declan P., Brand, Thomas, Milting, Hendrik, Nuernberg, Peter, Schneider, Michael D., Prasad, Sanjay, Petretto, Enrico and Knoll, Ralph (2015). ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure. Circ.-Cardiovasc. Genet., 8 (5). S. 643 - 653. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1942-3268

Debrah, Alexander Yaw, Batsa, Linda, Albers, Anna, Mand, Sabine, Toliat, Mohammad Reza, Nuernberg, Peter, Adjei, Ohene, Hoerauf, Achim and Pfarr, Kenneth ORCID: 0000-0003-3096-2465 (2011). Transforming growth factor-beta 1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis. Hum. Immunol., 72 (11). S. 1143 - 1149. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1879-1166

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Jabbari, Kamel, Bobbili, Dheeraj R., Lal, Dennis, Reinthaler, Eva M., Schubert, Julian, Wolking, Stefan ORCID: 0000-0002-1460-6623, Sinha, Vishal, Motameny, Susanne, Thiele, Holger, Kawalia, Amit, Altmueller, Janine, Toliat, Mohammad Reza, Kraaij, Robert, van Rooij, Jeroen, Uitterlinden, Andre G., Ikram, M. Arfan, Zara, Federico, Lehesjoki, Anna-Elina, Krause, Roland, Zimprich, Fritz ORCID: 0000-0002-6998-5480, Sander, Thomas, Neubauer, Bernd A., May, Patrick ORCID: 0000-0001-8698-3770, Lerche, Holger and Nuernberg, Peter (2018). Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One, 13 (8). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Jurkute, Neringa ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135 (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann. Neurol., 86 (3). S. 368 - 384. HOBOKEN: WILEY. ISSN 1531-8249

Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid (2021). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin. Genet., 100 (4). S. 486 - 489. HOBOKEN: WILEY. ISSN 1399-0004

Khan, Hina N., Perlee, Desiree, Schoenmaker, Lieke, Van Der Meer, Anne-Jan, Franitza, Marek, Toliat, Mohammad Reza, Nuernberg, Peter, Zwinderman, Aeilko H., van Der Poll, Tom and Scicluna, Brendon P. (2019). Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia. J. Leukoc. Biol., 106 (5). S. 1153 - 1161. HOBOKEN: WILEY. ISSN 1938-3673

Koko, Mahmoud ORCID: 0000-0001-9512-0184, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL-Amin, Melka, Esteves, Typhaine, Altmuller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nurnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger and Stevanin, Giovanni ORCID: 0000-0001-9368-8657 (2021). An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann. Hum. Genet., 85 (5). S. 186 - 196. HOBOKEN: WILEY. ISSN 1469-1809

Leineweber, Kirsten, Frey, Ulrich H., Tenderich, Gero, Toliat, Mohammad Reza, Zittermann, Armin, Nuernberg, Peter, Koerfer, Reiner, Siffert, Winfried and Heusch, Gerd (2010). The Arg16Gly-beta(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn-Schmiedebergs Arch. Pharmacol., 382 (4). S. 357 - 366. NEW YORK: SPRINGER. ISSN 1432-1912

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genet., 46 (12). S. 1283 - 1293. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Mehrjoo, Zohreh, Fattahi, Zohreh, Beheshtian, Maryam, Gossmann, Yasmina, Helwing, Barbara, Niestroj, Lisa-Marie, Toliat, Mohammad Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2017). Distinct Human Genetic Variation in Iran. Hum. Hered., 83 (5). S. 241 - 242. BASEL: KARGER. ISSN 1423-0062

Mehrjoo, Zohreh ORCID: 0000-0003-3296-6283, Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Ardalani, Fariba, Jalalvand, Khadijeh, Arzhangi, Sanaz, Mohammadi, Zahra, Khoshbakht, Shahrouz, Najafi, Farid, Nikuei, Pooneh, Haddadi, Mohammad, Zohrehvand, Elham, Oladnabi, Morteza, Mohammadzadeh, Akbar, Jafari, Mandana Hadi, Akhtarkhavari, Tara, Gooshki, Ehsan Shamsi, Haghdoost, Aliakbar, Najafipour, Reza, Niestroj, Lisa-Marie, Helwing, Barbara ORCID: 0000-0001-9226-1053, Gossmann, Yasmina, Toliat, Mohammad Reza, Malekzadeh, Reza, Nuernberg, Peter, Kahrizi, Kimia, Najmabadi, Hossein and Nothnagel, Michael ORCID: 0000-0001-8305-7114 (2019). Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet., 15 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1553-7404

Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Bustos, Bernabe, I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shoenfels, Witigo, Schafmayer, Clemens, Ahnert, Peter ORCID: 0000-0002-1771-0856, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Puschel, Klaus, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, Nuernberg, Peter, Miquel, Juan Francisco and De Ferrari, Giancarlo, V (2020). Copy number variants in lipid metabolism genes are associated with gallstones disease in men. Eur. J. Hum. Genet., 28 (2). S. 264 - 274. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Reichwagen, Annegret, Ziepert, Marita, Kreuz, Markus ORCID: 0000-0002-0520-8391, Goedtel-Armbrust, Ute, Rixecker, Tanja, Poeschel, Viola, Toliat, Mohammad Reza, Nuernberg, Peter, Tzvetkov, Mladen, Deng, Shiwei, Truemper, Lorenz, Hasenfuss, Gerd, Pfreundschuh, Michael and Wojnowski, Leszek (2015). Association of NADPH oxidase polymorphisms with anthracycline-induced cardiotoxicity in the RICOVER-60 trial of patients with aggressive CD20(+) B-cell lymphoma. Pharmacogenomics, 16 (4). S. 361 - 373. LONDON: FUTURE MEDICINE LTD. ISSN 1744-8042

Stoelting, Gabriel, Teodorescu, Georgeta, Begemann, Birgit, Schubert, Julian, Nabbout, Rima, Toliat, Mohammad Reza, Sander, Thomas, Nuernberg, Peter, Lerche, Holger and Fahlke, Christoph ORCID: 0000-0001-8602-9952 (2013). Regulation of ClC-2 gating by intracellular ATP. Pflugers Arch., 465 (10). S. 1423 - 1438. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-2013

Vormfelde, Stefan Viktor, Toliat, Mohammad Reza, Nuernberg, Peter and Brockmoeller, Juergen (2010). Atrial natriuretic peptide polymorphisms, hydrochlorothiazide and urinary potassium excretion. Int. J. Cardiol., 144 (1). S. 72 - 76. CLARE: ELSEVIER IRELAND LTD. ISSN 0167-5273

Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297