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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