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Journal Article
Ishorst, Nina, Henschel, Leonie, Thieme, Frederic, Drichel, Dmitriy, Sivalingam, Sugirthan, Mehrem, Sarah L., Fechtner, Ariane C., Fazaal, Julia, Welzenbach, Julia, Heimbach, Andre, Maj, Carlo, Borisov, Oleg, Hausen, Jonas, Raff, Ruth, Hoischen, Alexander 
ORCID: 0000-0002-8072-4476, Dixon, Michael, Rada-Iglesias, Alvaro, Bartusel, Michaela, Rojas-Martinez, Augusto, Aldhorae, Khalid, Braumann, Bert, Kruse, Teresa, Kirschneck, Christian, Spanier, Gerrit, Reutter, Heiko, Nowak, Stefanie, Goelz, Lina, Knapp, Michael, Buness, Andreas, Krawitz, Peter, Noethen, Markus M., Nothnagel, Michael, Becker, Tim, Ludwig, Kerstin U. and Mangold, Elisabeth
(2023).
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Mol. Genet. Genom. Med., 11 (3).
HOBOKEN:
WILEY.
ISSN 2324-9269
Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique ORCID: 0000-0002-9696-4562, Timal, Sharita, Reunert, Janine, Rust, Stephan, Perez, Belen, Vicogne, Dorothee, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel ORCID: 0000-0001-9679-7955, Perez-Cerda, Celia, Medrano, Celia ORCID: 0000-0001-9634-7874, Arnoldy, Andrea, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce ORCID: 0000-0001-9989-9236, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A. W., Holleboom, Adriaan G., Nassogne, Marie-Cecile ORCID: 0000-0001-6936-1611, Sokal, Etienne ORCID: 0000-0001-5597-4708, Salomon, Jody, van den Bogaart, Geert ORCID: 0000-0003-2180-6735, Drenth, Joost P. H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert ORCID: 0000-0001-6710-1912, Foulquier, Francois, Marquardt, Thorsten and Lefeber, Dirk J.
(2016).
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am. J. Hum. Genet., 98 (2).
S. 310 - 322.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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
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
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