Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

von Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd
Veröffentlicht 2010

Functional characterization of the GUCY1A3 coronary artery disease risk locus

von Kessler, Thorsten, Wobst, Jana, Wolf, Bernhard, Eckhold, Juliane, Vilne, Baiba, Hollstein, Ronja, von Ameln, Simon, Dang, Tan An, Sager, Hendrik B., Rumpf, Philipp Moritz, Aherrahrou, Redouane, Kastrati, Adnan, Björkegren, Johan L.M., Erdmann, Jeanette, Lusis, Aldons J., Civelek, Mete, Kaiser, Frank J., Schunkert, Heribert
Veröffentlicht in Circulation (2017)

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

von Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.
Veröffentlicht 2011

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors

von Brænne, Ingrid, Willenborg, Christina, Tragante, Vinicius, Kessler, Thorsten, Zeng, Lingyao, Reiz, Benedikt, Kleinecke, Mariana, von Ameln, Simon, Willer, Cristen J., Laakso, Markku, Wild, Philipp S., Zeller, Tanja, Wallentin, Lars, Franks, Paul W., Salomaa, Veikko, Dehghan, Abbas, Meitinger, Thomas, Samani, Nilesh J., Asselbergs, Folkert W., Erdmann, Jeanette, Schunkert, Heribert
Veröffentlicht in Sci Rep (2017)

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

von von Ameln, Simon, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nürnberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nürnberg, Peter, Hofmann, Kay, Richardson, Guy P., Hammerschmidt, Matthias, Moser, Tobias, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid, Kubisch, Christian
Veröffentlicht 2012

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

von Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Veröffentlicht in Nat Genet (2014)

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

von Borck, Guntram, Rehman, Atteeq Ur, Lee, Kwanghyuk, Pogoda, Hans-Martin, Kakar, Naseebullah, von Ameln, Simon, Grillet, Nicolas, Hildebrand, Michael S., Ahmed, Zubair M., Nürnberg, Gudrun, Ansar, Muhammad, Basit, Sulman, Javed, Qamar, Morell, Robert J., Nasreen, Nabilah, Shearer, A. Eliot, Ahmad, Adeel, Kahrizi, Kimia, Shaikh, Rehan S., Ali, Rana A., Khan, Shaheen N., Goebel, Ingrid, Meyer, Nicole C., Kimberling, William J., Webster, Jennifer A., Stephan, Dietrich A., Schiller, Martin R., Bahlo, Melanie, Najmabadi, Hossein, Gillespie, Peter G., Nürnberg, Peter, Wollnik, Bernd, Riazuddin, Saima, Smith, Richard J.H., Ahmad, Wasim, Müller, Ulrich, Hammerschmidt, Matthias, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Ahmad, Jamil, Kubisch, Christian
Veröffentlicht 2011