Universität zu Köln

Journal Article

Dron, Jacqueline S., Wang, Jian, Berberich, Amanda, Tremblay, Karine, Cao, Henian, Gouni-Berthold, Ioanna, Brisson, Diane, Gaudet, Daniel and Hegele, Robert A. (2018). LARGE-SCALE DELETIONS OF THE ABCA1 GENE IN PATIENTS WITH HYPOALPHALIPOPROTEINEMIA. Atheroscler. Suppl., 32. S. 50 - 51. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-5050

Dron, Jacqueline S., Wang, Jian, Berberich, Amanda J., Iacocca, Michael A., Cao, Henian, Yang, Ping, Knoll, Joan, Tremblay, Karine, Brisson, Diane, Netzer, Christian, Gouni-Berthold, Ioanna, Gaudet, Daniel and Hegele, Robert A. (2018). Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia. J. Lipid Res., 59 (8). S. 1529 - 1536. ROCKVILLE: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1539-7262

Gouni-Berthold, Ioanna, Alexander, Veronica J., Yang, Qingqing, Hurh, Eunju, Steinhagen-Thiessen, Elisabeth, Moriarty, Patrick M., Hughes, Stephen G., Gaudet, Daniel, Hegele, Robert A., O'Dea, Louis St L., Stroes, Erik S. G., Tsimikas, Sotirios and Witztum, Joseph L. (2021). Efficacy and safety of volanesorsen in patients with multifactorial chylomicronaemia (COMPASS): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial. Lancet Diabetes Endocrinol., 9 (5). S. 264 - 276. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2213-8595

Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick ORCID: 0000-0002-9673-795X, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Mueller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nuernberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole ORCID: 0000-0003-4626-9809, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A. and Boycott, Kym M. (2011). TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. Am. J. Hum. Genet., 89 (6). S. 713 - 731. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Goekhan, Canan, Husniye, Pawlik, Barbara, Nuernberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda ORCID: 0000-0001-8472-5911, May, Klaus W., Nuernberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias and Wollnik, Bernd (2010). Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. Am. J. Hum. Genet., 87 (6). S. 757 - 768. CAMBRIDGE: CELL PRESS. ISSN 1537-6605