Universität zu Köln

Thieme, Frederic, Henschel, Leonie, Hammond, Nigel L., Ishorst, Nina, Hausen, Jonas, Adamson, Antony D., Biedermann, Angelika, Bowes, John, Zieger, Hanna K., Maj, Carlo, Kruse, Teresa, Buness, Andreas, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kreusch, Thomas, Jaeger, Andreas, Goelz, Lina, Braumann, Bert, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Rojas-Martinez, Augusto, Krawitz, Peter M., Mangold, Elisabeth, Dixon, Michael J. and Ludwig, Kerstin U. (2021). Extending the allelic spectrum at noncoding risk loci of orofacial clefting. Hum. Mutat., 42 (8). S. 1066 - 1079. HOBOKEN: WILEY. ISSN 1098-1004

Kargapolova, Yulia ORCID: 0000-0001-7541-5778, Rehimi, Rizwan, Kayserili, Huelya, Bruehl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Goekhan, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian ORCID: 0000-0003-1693-9699, Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa ORCID: 0000-0001-7683-0869, Altmueller, Janine, Nuernberg, Peter, Laengst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341, Kurian, Leo ORCID: 0000-0001-7466-5169, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Bouazoune, Karim and Papantonis, Argyris (2021). Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Dukic, Dejan, Hsieh, Tzung-Chien ORCID: 0000-0003-3828-4419, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz ORCID: 0000-0003-0017-8338, Gilissen, Christian ORCID: 0000-0003-1693-9699, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor ORCID: 0000-0003-4496-244X and Netzer, Christian (2019). The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Am. J. Hum. Genet., 104 (4). S. 749 - 758. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Lipinski, Simone, Petersen, Britt-Sabina, Barann, Matthias, Piecyk, Agnes ORCID: 0000-0002-9582-121X, Tran, Florian, Mayr, Gabriele, Jentzsch, Marlene, Aden, Konrad ORCID: 0000-0003-3482-7316, Stengel, Stephanie T., Klostermeier, Ulrich C., Sheth, Vrunda, Ellinghaus, David, Rausch, Tobias ORCID: 0000-0001-5773-5620, Korbel, Jan O., Nothnagel, Michael ORCID: 0000-0001-8305-7114, Krawczak, Michael ORCID: 0000-0003-2603-1502, Gilissen, Christian ORCID: 0000-0003-1693-9699, Veltman, Joris A., Forster, Michael ORCID: 0000-0001-9927-5124, Forster, Peter, Lee, Clarence C., Fritscher-Ravens, Annette, Schreiber, Stefan, Franke, Andre and Rosenstiel, Philip ORCID: 0000-0002-9692-8828 (2019). Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2. Cold Spring Harb. Mol. Case Stud., 5 (1). COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 2373-2873

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605