University Center for Rare Diseases
Organisational unit: Centre
Related content and researchers (public profile)
- Research output
- Journals
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Schmidt, A., Danyel, M., Grundmann, K., Brunet, T., Klinkhammer, H., Hsieh, T-C., Engels, H., & 165 othersPeters, S., Knaus, A., Moosa, S., Averdunk, L., Boschann, F., Sczakiel, H. L., Schwartzmann, S., Mensah, M. A., Pantel, J. T., Holtgrewe, M., Bösch, A., Weiß, C., Weinhold, N., Suter, A-A., Stoltenburg, C., Neugebauer, J., Kallinich, T., Kaindl, A. M., Holzhauer, S., Bührer, C., Bufler, P., Kornak, U., Ott, C-E., Schülke, M., Nguyen, H. H. P., Hoffjan, S., Grasemann, C., Rothoeft, T., Brinkmann, F., Matar, N., Sivalingam, S., Perne, C., Mangold, E., Kreiss, M., Cremer, K., Betz, R. C., Mücke, M., Grigull, L., Klockgether, T., Spier, I., Heimbach, A., Bender, T., Brand, F., Stieber, C., Morawiec, A. M., Karakostas, P., Schäfer, V. S., Bernsen, S., Weydt, P., Castro-Gomez, S., Aziz, A., Grobe-Einsler, M., Kimmich, O., Kobeleva, X., Önder, D., Lesmann, H., Kumar, S., Tacik, P., Basin, M. A., Incardona, P., Lee-Kirsch, M. A., Berner, R., Schuetz, C., Körholz, J., Kretschmer, T., Di Donato, N., Schröck, E., Heinen, A., Reuner, U., Hanßke, A-M., Kaiser, F. J., Manka, E., Munteanu, M., Kuechler, A., Cordula, K., Hirtz, R., Schlapakow, E., Schlein, C., Lisfeld, J., Kubisch, C., Herget, T., Hempel, M., Weiler-Normann, C., Ullrich, K., Schramm, C., Rudolph, C., Rillig, F., Groffmann, M., Muntau, A., Tibelius, A., Schwaibold, E. M. C., Schaaf, C. P., Zawada, M., Kaufmann, L., Hinderhofer, K., Okun, P. M., Kotzaeridou, U., Hoffmann, G. F., Choukair, D., Bettendorf, M., Spielmann, M., Ripke, A., Pauly, M., Münchau, A., Lohmann, K., Hüning, I., Hanker, B., Bäumer, T., Herzog, R., Hellenbroich, Y., Westphal, D. S., Strom, T., Kovacs, R., Riedhammer, K. M., Mayerhanser, K., Graf, E., Brugger, M., Hoefele, J., Oexle, K., Mirza-Schreiber, N., Berutti, R., Schatz, U., Krenn, M., Makowski, C., Weigand, H., Schröder, S., Rohlfs, M., Vill, K., Hauck, F., Borggraefe, I., Müller-Felber, W., Kurth, I., Elbracht, M., Knopp, C., Begemann, M., Kraft, F., Lemke, J. R., Hentschel, J., Platzer, K., Strehlow, V., Abou Jamra, R., Kehrer, M., Demidov, G., Beck-Wödl, S., Graessner, H., Sturm, M., Zeltner, L., Schöls, L. J., Magg, J., Bevot, A., Kehrer, C., Kaiser, N., Turro, E., Horn, D., Grüters-Kieslich, A., Klein, C., Mundlos, S., Nöthen, M., Riess, O., Meitinger, T., Krude, H., Krawitz, P. M., Haack, T., Ehmke, N. & Wagner, M., Aug 2024, In: Nature genetics. 56, 8, p. 1644-1653 10 p.Research output: Contribution to journal › Research article › Contributed
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges
Bayoumy, S., Verberk, I. M. W., Vermunt, L., Willemse, E., den Dulk, B., van der Ploeg, A. T., Pajkrt, D., & 8 othersNitz, E., van den Hout, J. M. P., van der Post, J., Wolf, N. I., Beerepoot, S., Groen, E. J. N., Tüngler, V. & Teunissen, C. E., 25 Jun 2024, In: Clinical chemistry and laboratory medicine. 62, 7, p. 1252-1265 14 p.Research output: Contribution to journal › Review article › Contributed › peer-review
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned
Zoch, M., Gierschner, C., Andreeff, A-K., Henke, E., Sedlmayr, M., Müller, G., Tippmann, J., & 13 othersHebestreit, H., Choukair, D., Hoffmann, G. F., Fritz-Kebede, F., Toepfner, N., Berner, R., Biergans, S., Verbücheln, R., Schaaf, J., Fleck, J., Wirth, F. N., Schepers, J. & Prasser, F., 1 Jan 2024, In: Digital health. 10Research output: Contribution to journal › Research article › Contributed › peer-review
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9
Wolf, C., Fischer, H., Kühl, J-S., Koss, S., Abou Jamra, R., Starke, S., Schultz, J., & 6 othersEhl, S., Neumann, K., Schuetz, C., Huber, R., Hornung, V. & Lee-Kirsch, M. A., Nov 2023, In: Journal of Allergy and Clinical Immunology. 152, 5, p. 1336-1344.e5Research output: Contribution to journal › Research article › Contributed › peer-review
Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers
Vanselow, S., Hanitsch, L., Hauck, F., Körholz, J., Maccari, M. E., Meinhardt, A., Sogkas, G., & 2 othersSchuetz, C. & Grimbacher, B., 5 Oct 2023, In: Frontiers in immunology. 14, 1279652.Research output: Contribution to journal › Research article › Contributed › peer-review
Digital health
ISSNs: 2055-2076
Additional searchable ISSN (electronic): 2055-2076
Sage Periodicals Press, Thousand Oaks, Calif. [u.a.], United States of America
Scopus rating (2023): CiteScore 2.9 SJR 0.767 SNIP 0.917
Journal
Pädiatrische Praxis
ISSNs: 0030-9346
Additional searchable ISSN (electronic): 2198-1698
Hans Marseille Verlag GmbH
Scopus rating (2023): CiteScore 0.1 SJR 0.1 SNIP 0.029
Journal
Das Gesundheitswesen : Sozialmedizin, Gesundheits-System-Forschung, medizinischer Dienst, public health, öffentlicher Gesundheitsdienst, Versorgungsforschung
ISSNs: 0941-3790, 0029-8573, 0949-7013
Additional searchable ISSN (electronic): 1439-4421, 1615-5602
Georg Thieme Verlag, Germany
Scopus rating (2023): CiteScore 1.9 SJR 0.332 SNIP 0.699
Journal
Nature Genetics
ISSNs: 1061-4036
Additional searchable ISSN (electronic): 1546-1718
Nature Publishing Group
Scopus rating (2023): CiteScore 43 SJR 17.3 SNIP 5.872
Journal
Clinical Chemistry and Laboratory Medicine
ISSNs: 1434-6621, 0939-4974, 0340-076X, 0044-2933
Additional searchable ISSN (electronic): 1437-4331
De Gruyter, Boston
Scopus rating (2023): CiteScore 11.3 SJR 1.081 SNIP 1.243
Journal