Universität zu Köln

Journal Article

Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe (2017). De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. Am. J. Hum. Genet., 101 (5). S. 833 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo ORCID: 0000-0001-8486-0558, Afawi, Zaid, Pendziwiat, Manuela, Abu-Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise and Krawitz, Peter M. (2016). Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Hum. Mutat., 37 (8). S. 737 - 745. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004

Koutsouleris, Nikolaos, Dwyer, Dominic B., Degenhardt, Franziska, Maj, Carlo, Urquijo-Castro, Maria Fernanda, Sanfelici, Rachele, Popovic, David, Oeztuerk, Oemer, Haas, Shalaila S., Weiske, Johanna, Ruef, Anne, Kambeitz-Ilankovic, Lana, Antonucci, Linda A., Neufang, Susanne, Schmidt-Kraepelin, Christian, Ruhrmann, Stephan, Penzel, Nora, Kambeitz, Joseph, Haidl, Theresa K., Rosen, Marlene, Chisholm, Katharine, Riecher-Rossler, Anita, Egloff, Laura, Schmidt, Andre, Andreou, Christina, Hietala, Jarmo, Schirmer, Timo, Romer, Georg, Walger, Petra, Franscini, Maurizia, Traber-Walker, Nina, Schimmelmann, Benno G., Fluckiger, Rahel, Michel, Chantal, Rossler, Wulf ORCID: 0000-0003-0049-4533, Borisov, Oleg, Krawitz, Peter M., Heekeren, Karsten ORCID: 0000-0001-5105-1922, Buechler, Roman, Pantelis, Christos, Falkai, Peter, Salokangas, Raimo K. R., Lencer, Rebekka, Bertolino, Alessandro, Borgwardt, Stefan, Noethen, Markus, Brambilla, Paolo, Wood, Stephen J., Upthegrove, Rachel, Schultze-Lutter, Frauke, Theodoridou, Anastasia and Meisenzahl, Eva . Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression. JAMA Psychiatry. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6238

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

Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba ORCID: 0000-0001-5371-6756, Rousseau, Justine ORCID: 0000-0002-3554-2673, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian ORCID: 0000-0002-2768-1702, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna ORCID: 0000-0002-7560-797X, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth ORCID: 0000-0001-6749-3661, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh and Campeau, Philippe M. (2019). Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am. J. Hum. Genet., 105 (2). S. 384 - 395. CAMBRIDGE: CELL PRESS. ISSN 1537-6605