Universität zu Köln

Journal Article

Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364 (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J. Med. Genet., 53 (6). S. 419 - 426. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Gross, Eva, Gehrig, Andrea, Mueller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Franke, Andre ORCID: 0000-0003-1530-5811, Lieb, Wolfgang, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo ORCID: 0000-0003-4991-763X, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2017). Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. JAMA Oncol., 3 (9). S. 1245 - 1249. CHICAGO: AMER MEDICAL ASSOC. ISSN 2374-2445

Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Gross, Eva, Bluemcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Mueller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmueller, Janine, Neidhardt, Guido, Nuernberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad ORCID: 0000-0001-6127-6308, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian ORCID: 0000-0003-4220-0978, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric (2018). BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer. Breast Cancer Res., 20. LONDON: BMC. ISSN 1465-5411