Center for Obstetrics and Pediatrics
Publications
- 2024
Comparative analysis of artificial intelligence and expert assessments in detecting neonatal procedural pain
Giordano, V., Luister, A., Vettorazzi, E., Wonka, K., Pointner, N., Steinbauer, P., Wagner, M., Berger, A., Singer, D. & Deindl, P., 02.09.2024, In: SCI REP-UK. 14, 1, 20374.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hemodiafiltration for children with stage 5 chronic kidney disease: technical aspects and outcomes
Ahlmann, C., Stronach, L., Waters, K., Walker, K., Oh, J., Schmitt, C. P., Ranchin, B. & Shroff, R., 09.2024, In: PEDIATR NEPHROL. 39, 9, p. 2611-2626 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Morphology-based molecular classification of spinal cord ependymomas using deep neural networks
Schumann, Y., Dottermusch, M., Schweizer, L., Krech, M., Lempertz, T., Schüller, U., Neumann, P. & Neumann, J. E., 09.2024, In: BRAIN PATHOL. 34, 5, p. e13239Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting, L., Holling, T., Nishimura, G., Ek, J., Bak, M., Ljungberg, M., Kutsche, K. & Hove, H., 09.2024, In: CLIN GENET. 106, 3, p. 360-366 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Hecher, L., Gorski-Alberts, E., Begemann, M., Herwig, J., Lausberg, E., Hillebrand, G., Volk, A. E., Kurth, I., Kraft, F. & Kutsche, K., 29.08.2024, In: J MED GENET. 61, 9, p. 833-838 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dissecting humoral immune responses to an MVA-vectored MERS-CoV vaccine in humans using a systems serology approach
Weskamm, L. M., Tarnow, P., Harms, C., Huchon, M., Raadsen, M. P., Friedrich, M., Rübenacker, L., Grüttner, C., Garcia, M. G., Koch, T., Becker, S., Sutter, G., Lhomme, E., Haagmans, B. L., Fathi, A., Blois, S. M., Dahlke, C., Richert, L., Addo, M. M. & MVA-MERS-S-CEF study group, 16.08.2024, In: ISCIENCE. 27, 8, p. 110470Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fetal growth restriction induced by maternal gal-3 deficiency is associated with altered gut-placenta axis
Xie, Y., Zhao, F., Wang, Y., Borowski, S., Freitag, N., Tirado-Gonzalez, I., Hofsink, N., Matschl, U., Plösch, T., Garcia, M. G. & Blois, S. M., 08.08.2024, In: CELL DEATH DIS. 15, 8, p. 575Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Autoantibodies Targeting Nephrin in Podocytopathies
Hengel, F. E., Dehde, S., Lassé, M., Zahner, G., Seifert, L., Schnarre, A., Kretz, O., Demir, F., Pinnschmidt, H. O., Grahammer, F., Lucas, R., Mehner, L. M., Zimmermann, T., Billing, A. M., Oh, J., Mitrotti, A., Pontrelli, P., Debiec, H., Dossier, C., Colucci, M., Emma, F., Smoyer, W. E., Weins, A., Schaefer, F., Alachkar, N., Diemert, A., Hogan, J., Hoxha, E., Wiech, T., Rinschen, M. M., Ronco, P., Vivarelli, M., Gesualdo, L., Tomas, N. M., Huber, T. B. & International Society of Glomerular Disease, 01.08.2024, In: NEW ENGL J MED. 391, 5, p. 422-433 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Favorable Outcome After Single-kidney Transplantation From Small Donors in Children: A Match-controlled CERTAIN Registry Study
Schild, R., Carvajal Abreu, K., Büscher, A., Kanzelmeyer, N., Lezius, S., Krupka, K., Weitz, M., Prytula, A., Printza, N., Berta, L., Saygılı, S. K., Sellier-Leclerc, A-L., Spartà, G., Marks, S. D., König, S., Topaloglu, R., Klaus, G., Weber, S., Oh, J., Herden, U., Carraro, A., Dello Strologo, L., Ariceta, G., Hoyer, P., Tönshoff, B. & Pape, L., 01.08.2024, In: TRANSPLANTATION. 108, 8, p. 1793-1801 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome
Fritsch, L-M., Reinshagen, K., Apostolidou, S., Singer, D., Peters, U., de Sousa, M. T., Herrmann, J. & Deindl, P., 08.2024, In: Z GEBURTSH NEONATOL. 228, 4, p. 394-395 2 p.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Myocardial strain assessment in the human fetus by cardiac MRI using Doppler ultrasound gating and feature tracking
Dargahpour Barough, M., Tavares de Sousa, M., Hergert, B., Fischer, R., Huber, L., Seliger, J. M., Kaul, M. G., Adam, G., Herrmann, J., Bannas, P. & Schoennagel, B. P., 08.2024, In: EUR RADIOL. 34, 8, p. 4920-4927 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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., Peters, 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., 08.2024, In: NAT GENET. 56, 8, p. 1644-1653 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Non-fracture acute compartment syndrome in the upper extremity of a 14-year-old boy: A case report and review of the literature
Niklaus, M., Reinshagen, K. & Wintges, K., 08.2024, In: INT J SURG CASE REP. 121, p. 109983Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Placental glycosylation senses the anti-angiogenic milieu induced by human sFLT1 during pregnancy
Kirkgöz, K., Vogtmann, R., Xie, Y., Zhao, F., Riedel, A., Adam, L-M., Freitag, N., Harms, C., Garcia, M. G., Plösch, T., Gellhaus, A. & Blois, S. M., 08.2024, In: J REPROD IMMUNOL. 164, p. 104284Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Arabin cervical pessary for the prevention of preterm birth in twin-to-twin transfusion syndrome treated by fetoscopic laser coagulation: a multicenter randomized controlled trial
Rodo, C., Maiz, N., Arevalo, S., Lewi, L., Couck, I., Hollwitz, B., Kyvernitakis, I., Carreras, E. & Hecher, K., 08.2024, In: AM J OBSTET GYNECOL. 231, 2, p. 252.e1-252.e11Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multiomic profiling of medulloblastoma reveals subtype-specific targetable alterations at the proteome and N-glycan level
Godbole, S., Voß, H., Gocke, A., Schlumbohm, S., Schumann, Y., Peng, B., Mynarek, M., Rutkowski, S., Dottermusch, M., Dorostkar, M. M., Korshunov, A., Mair, T., Pfister, S. M., Kwiatkowski, M., Hotze, M., Neumann, P., Hartmann, C., Weis, J., Liesche-Starnecker, F., Guan, Y., Moritz, M., Siebels, B., Struve, N., Schlüter, H., Schüller, U., Krisp, C. & Neumann, J. E., 24.07.2024, In: NAT COMMUN. 15, 1, p. 6237Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Intergenic risk variant rs56258221 skews the fate of naive CD4+ T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis
Poch, T., Bahn, J., Casar, C., Krause, J., Evangelakos, I., Gilladi, H., Kunzmann, L. K., Laschtowitz, A., Iuso, N., Schäfer, A-M., Liebig, L. A., Steinmann, S., Sebode, M., Folseraas, T., Engesæter, L. K., Karlsen, T. H., Franke, A., Metabolic Sciences, Max Delbrück Centre for Molecular Medicine in the Helmholtz Association, C., Schlein, C., Galun, E., Huber, S., Lohse, A. W., Gagliani, N., Schwinge, D. & Schramm, C., 16.07.2024, In: CELL REP MED. 5, 7, p. 101620Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Radiation Therapy Plays an Important Role in the Treatment of Atypical Teratoid/Rhabdoid Tumors: Analysis of the EU-RHAB Cohorts and Their Precursors
Frisch, S., Libuschewski, H., Peters, S., Gerß, J., von Hoff, K., Kortmann, R-D., Nemes, K., Rutkowski, S., Hasselblatt, M., Pietsch, T., Frühwald, M. C. & Timmermann, B., 15.07.2024, In: INT J RADIAT ONCOL. 119, 4, p. 1147-1157 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ikaros sets the threshold for negative B-cell selection by regulation of the signaling strength of the AKT pathway
Ehm, P. A. H., Horn, S., Hoffer, K., Kriegs, M., Horn, M., Giehler, S., Nalaskowski, M., Rehbach, C., Horstmann, M. A. & Jücker, M., 12.07.2024, In: CELL COMMUN SIGNAL. 22, 1, p. 360Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exploring cell death mechanisms in spheroid cultures using a novel application of the RIP3-caspase3-assay
Philippi, C. I., Hagens, J., Heuer, K. M., Schmidt, H. C., Schuppert, P., Pagerols Raluy, L., Trochimiuk, M., Li, Z., Bunders, M. J., Reinshagen, K. & Tomuschat, C., 11.07.2024, In: SCI REP-UK. 14, 1, p. 16032Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared to a natural history cohort
Gaur, P., Gissen, P., Biswas, A., Mankad, K., Sudhakar, S., D'Arco, F., Schulz, A., Fiehler, J., Sedlacik, J. & Löbel, U., 08.07.2024, In: AM J NEURORADIOL.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy
Huang, W. C., Ohnsman, C. M., Atiskova, Y., Falabella, P., Spitzer, M. S., Schulz, A. & Dulz, S., 01.07.2024, In: INVEST OPHTH VIS SCI. 65, 8, p. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life
Steffens, P., Weiss, D., Perez, A., Appel, M., Weber, P., Weiss, C., Stoltenburg, C., Ehinger, U., von der Hagen, M., Schallner, J., Claussen, B., Lode, I., Hahn, A., Schuler, R., Ruß, L., Ziegler, A., Denecke, J. & Johannsen, J., 07.2024, In: EUR J PAEDIATR NEURO. 51, p. 17-23 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Haematopoietic stem cell transplantation after reduced intensity conditioning in children and adolescents with chronic myeloid leukaemia: A prospective multicentre trial of the I-BFM Study Group
Pichler, H., Sedlacek, P., Meisel, R., Beier, R., Faraci, M., Kalwak, K., Ifversen, M., Müller, I., Stein, J., Vettenranta, K., Kropshofer, G., Kolenova, A., Karlhuber, S., Glogova, E., Poetschger, U., Peters, C., Suttorp, M., Matthes-Leodolter, S. & Balduzzi, A., 07.2024, In: BRIT J HAEMATOL. 205, 1, p. 268-279 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers
Hüper, L., Steinacker, P., Polyakova, M., Mueller, K., Godulla, J., Herzig, S., Danek, A., Engel, A., Diehl-Schmid, J., Classen, J., Fassbender, K., Fliessbach, K., Jahn, H., Kassubek, J., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Obrig, H., Oeckl, P., Prudlo, J., Saur, D., Anderl-Straub, S., Synofzik, M., Wagner, M., Wiltfang, J., Winkelmann, J., Volk, A. E., FTLD Consortium Germany, Huppertz, H-J., Otto, M. & Schroeter, M. L., 07.2024, In: ALZHEIMERS DEMENT. 20, 7, p. 4461-4475 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R., van Gassen, K. L. I., Holwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 06.06.2024, In: AM J HUM GENET. 111, 6, p. 1206-1221 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of neonatal pain and opiate administration in animal models: A meta-analysis concerning pain threshold
Steinbauer, P., Lisy, T., Monje, F. J., Chwala, E., Wildner, B., Schned, H., Deindl, P., Berger, A., Giordano, V. & Olischar, M., 06.2024, In: EARLY HUM DEV. 193, p. 106014Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Personalized bacteriophage therapy outcomes for 100 consecutive cases: a multicentre, multinational, retrospective observational study
Pirnay, J-P., Djebara, S., Steurs, G., Griselain, J., Cochez, C., De Soir, S., Glonti, T., Spiessens, A., Vanden Berghe, E., Green, S., Wagemans, J., Lood, C., Schrevens, E., Chanishvili, N., Kutateladze, M., de Jode, M., Ceyssens, P-J., Draye, J-P., Verbeken, G., De Vos, D., Rose, T., Onsea, J., Van Nieuwenhuyse, B., Bacteriophage Therapy Providers, Bacteriophage Donors, Soentjens, P., Lavigne, R. & Merabishvili, M., 06.2024, In: NAT MICROBIOL. 9, 6, p. 1434-1453 20 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research
Predicting Spontaneous Preterm Birth Using the Immunome
Feyaerts, D., Marić, I., Arck, P. C., Prins, J. R., Gomez-Lopez, N., Gaudillière, B. & Stelzer, I. A., 06.2024, In: CLIN PERINATOL. 51, 2, p. 441-459 19 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Quantification of N-acetyl-L-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease
Posern, C., Dreyer, B., Maier, S. L., Eichler, F., Gelb, M. H., Santer, R., Bley, A. & Murko, S., 06.2024, In: MOL GENET METAB. 142, 2, p. 108489 108489.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Volume expansion mitigates Shiga toxin-producing E. coli-hemolytic uremic syndrome in children
Böckenhauer, J., Schild, R., Kemper, M. J., Henne, T., Stein, M. V., Oh, J. & Loos, S., 06.2024, In: PEDIATR NEPHROL. 39, 6, p. 1901-1907 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Tyrosine kinase inhibitor response of ABL-class acute lymphoblastic leukemia: the role of kinase type and SH3 domain
van Outersterp, I., Tasian, S. K., Reichert, C. E., Boeree, A., de Groot-Kruseman, H. A., Escherich, G., Boer, J. M. & den Boer, M. L., 23.05.2024, In: BLOOD. 143, 21, p. 2178-2189 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
Specchio, N., Gissen, P., de Los Reyes, E., Olaye, A., Camp, C., Curteis, T., Griffiths, A., Butt, T., Cohen-Pfeffer, J., Slasor, P., Sisic, Z., Jain, M. & Schulz, A., 22.05.2024, In: PLOS ONE. 19, 5, p. e0302382Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Radiotherapy for Recurrent Medulloblastoma in Children and Adolescents: Survival after Re-Irradiation and First-Time Irradiation
Adolph, J. E., Fleischhack, G., Tschirner, S., Rink, L., Dittes, C., Mikasch, R., Dammann, P., Mynarek, M., Obrecht-Sturm, D., Rutkowski, S., Bison, B., Warmuth-Metz, M., Pietsch, T., Pfister, S. M., Pajtler, K. W., Milde, T., Kortmann, R-D., Dietzsch, S., Timmermann, B., Tippelt, S. & German GPOH HIT-Network, 22.05.2024, In: CANCERS. 16, 11, 1955.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glycan Structures in Osteosarcoma as Targets for Lectin-Based Chimeric Antigen Receptor Immunotherapy
Prasse, N., Wessolowski, C., Müller, I., Cornils, K. & Franke, A-K., 14.05.2024, In: INT J MOL SCI. 25, 10, 5344.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany - a mixed-methods study
Inhestern, L., Otto, R., Brandt, M., Zybarth, D., Oheim, R., Schüler, H., Mir, T. S., Tsiakas, K., Dibaj, P., Zschüntzsch, J., Okun, P. M., Hegenbart, U., Sommerburg, O., Schramm, C., Weiler-Normann, C., Härter, M. & Bergelt, C., 13.05.2024, In: ORPHANET J RARE DIS. 19, 1, p. 197Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Anaplastic histology and distinct molecular features in a small series of spinal cord ependymomas
Schüller, U., Gocke, A., Godbole, S., Delbridge, C., Thomas, C. & Neumann, J. E., 12.05.2024, In: ACTA NEUROPATHOL. 147, 1, p. 83Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Diagnostic leukapheresis reveals distinct phenotypes of NSCLC circulating tumor cells
Rieckmann, L-M., Spohn, M., Ruff, L., Agorku, D., Becker, L., Borchers, A., Krause, J., O'Reilly, R., Hille, J., Velthaus-Rusik, J-L., Beumer, N., Günther, A., Willnow, L., Imbusch, C. D., Iglauer, P., Simon, R., Franzenburg, S., Winter, H., Thomas, M., Bokemeyer, C., Gagliani, N., Krebs, C. F., Sprick, M., Hardt, O., Riethdorf, S., Trumpp, A., Stoecklein, N. H., Peine, S., Rosenstiel, P., Pantel, K., Loges, S. & Janning, M., 08.05.2024, In: MOL CANCER. 23, 1, p. 93Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J-H., Ge, Y-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A., Emrick, L. T., Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 03.05.2024, In: BRAIN. 147, 5, p. 1837-1855 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Integrated proteomics spotlight the proteasome as a therapeutic vulnerability in Embryonal Tumors with Multilayered Rosettes
Dottermusch, M., Biabani, A., Lempertz, T., Schumann, Y., Navolic, J., Godbole, S., Obrecht, D., Frank, S., Dorostkar, M. M., Voß, H., Schlüter, H., Rutkowski, S., Schüller, U. & Neumann, J. E., 03.05.2024, In: NEURO-ONCOLOGY. 26, 5, p. 935-949 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic landscape of pediatric acute liver failure of indeterminate origin
Lenz, D., Schlieben, L. D., Shimura, M., Bianzano, A., Smirnov, D., Kopajtich, R., Berutti, R., Adam, R., Aldrian, D., Baric, I., Baumann, U., Bozbulut, N. E., Brugger, M., Brunet, T., Bufler, P., Burnytė, B., Calvo, P. L., Crushell, E., Dalgıç, B., Das, A. M., Dezsőfi, A., Distelmaier, F., Fichtner, A., Freisinger, P., Garbade, S. F., Gaspar, H., Goujon, L., Hadzic, N., Hartleif, S., Hegen, B., Hempel, M., Henning, S., Hoerning, A., Houwen, R., Hughes, J., Iorio, R., Iwanicka-Pronicka, K., Jankofsky, M., Junge, N., Kanavaki, I., Kansu, A., Kaspar, S., Kathemann, S., Kelly, D., Kırsaçlıoğlu, C. T., Knoppke, B., Kohl, M., Kölbel, H., Kölker, S., Konstantopoulou, V., Krylova, T., Kuloğlu, Z., Kuster, A., Laass, M. W., Lainka, E., Lurz, E., Mandel, H., Mayerhanser, K., Mayr, J. A., McKiernan, P., McLean, P., McLin, V., Mention, K., Müller, H., Pasquier, L., Pavlov, M., Pechatnikova, N., Peters, B., Petković Ramadža, D., Piekutowska-Abramczuk, D., Pilic, D., Rajwal, S., Rock, N., Roetig, A., Santer, R., Schenk, W., Semenova, N., Sokollik, C., Sturm, E., Taylor, R. W., Tschiedel, E., Urbonas, V., Urreizti, R., Vermehren, J., Vockley, J., Vogel, G-F., Wagner, M., van der Woerd, W., Wortmann, S. B., Zakharova, E., Hoffmann, G. F., Meitinger, T., Murayama, K., Staufner, C. & Prokisch, H., 01.05.2024, In: HEPATOLOGY. 79, 5, p. 1075-1087 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term Effects of Kidney Transplantation Compared With Dialysis on Intima-media Thickness in Children-Results From the 4C-T Study
Grabitz, C., Sugianto, R. I., Doyon, A., Azukaitis, K., Anarat, A., Bacchetta, J., Bayazit, A. K., Bulut, I. K., Caliskan, S., Canpolat, N., Duzova, A., Harambat, J., Kiyak, A., Longo, G., Obrycki, L., Paripovic, D., Thurn-Valsassina, D., Yilmaz, A., Shroff, R., Schaefer, F., Schmidt, B. M. W., Melk, A. & 4C Study Consortium, 01.05.2024, In: TRANSPLANTATION. 108, 5, p. 1212-1219 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Abdominal Aspergillosis – an Underdiagnosed Disease? Three Cases of Abdominal Aspergillosis in Severely Immunocompromised Infants
Hauch, R. T., Jankofsky, M., Klohs, S., Herden, U., Blohm, M. & Winkler, B., 05.2024, In: KLIN PADIATR. 236, 3, p. 189-192 4 p.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi, D., Bierhals, T., Volk, A. E., Kutsche, M., Paul, K. & Herget, T., 05.2024, In: AM J MED GENET A. 194, 5, p. e63515 e63515.Research output: SCORING: Contribution to journal › Case report › Research › peer-review
Exploring the perspective of adolescent childhood cancer survivors on follow-up care and their concerns regarding the transition process-A qualitative content analysis
Winzig, J., Inhestern, L., Sigmund, D., Paul, V., Hail, L-A., Rutkowski, S., Escherich, G. & Bergelt, C., 05.2024, In: CANCER MED-US. 13, 10, e7234.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fetal lung growth predicts the risk for early-life respiratory infections and childhood asthma
Zazara, D. E., Giannou, O., Schepanski, S., Pagenkemper, M., Giannou, A. D., Pincus, M., Belios, I., Bonn, S., Muntau, A. C., Hecher, K., Diemert, A. & Arck, P. C., 05.2024, In: WORLD J PEDIATR. 20, 5, p. 481-495 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Finding a balance in reduced toxicity hematopoietic stem cell transplantation for thalassemia: role of infused CD3+ cell count and immunosuppression
Meissner, B., Lang, P., Bader, P., Hoenig, M., Müller, I., Meisel, R., Greil, J., Sauer, M. G., Metzler, M., Corbacioglu, S., Burkhardt, B., Wölfl, M., Strahm, B., Kafa, K., Basu, O., Lode, H. N., Gruhn, B., Cario, H., Ozga, A-K., Zimmermann, M., Jarisch, A. & Beier, R., 05.2024, In: BONE MARROW TRANSPL. 59, 5, p. 587-596 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms, F. L., Rexach, J. E., Efthymiou, S., Aynekin, B., Per, H., Güleç, A., Nampoothiri, S., Sampaio, H., Sachdev, R., Stoeva, R., Myers, K., Pena, L. D. M., Kalfa, T. A., Chard, M., Klassen, M., Pries, M. & Kutsche, K., 05.2024, In: EUR J HUM GENET. 32, 5, p. 558-566 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Survivors of infant atypical teratoid/rhabdoid tumors present with severely impaired cognitive functions especially for fluid intelligence and visual processing: data from the German brain tumor studies
Traunwieser, T., Loos, E., Ottensmeier, H., Gastberger, K., Nemes, K., Mynarek, M., Bison, B., Kandels, D., Neumayer, P., Neumann-Holbeck, A., Lüttich, P., Baust, K., Faulstich-Ritter, K., John, R., Kreisch, A., Landmann, J., Manteufel, E., Nest, A., Prüfe, J., Schubert, L., Stamm, W., Timmermann, B., Gerss, J., Rutkowski, S., Schlegel, P-G., Eyrich, M., Gnekow, A. K. & Frühwald, M. C., 05.2024, In: PEDIATR BLOOD CANCER. 71, 5, p. e30910Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić, S., Cybulski, C., Van der Post, R. S., Vos, J. R., Schuurs-Hoeijmakers, J., Brugnoletti, F., Koene, S., Vreede, L., van Zelst-Stams, W. A. G., Kets, C. M., Haadsma, M., Spruijt, L., Wevers, M. R., Evans, D. G., Wimmer, K., Schnaiter, S., Volk, A. E., Möllring, A., de Putter, R., Soikkonen, L., Kahre, T., Tooming, M., de Jong, M. M., Vaz, F., Mensenkamp, A. R., Genuardi, M., Lubinski, J., Ligtenberg, M., Hoogerbrugge, N. & de Voer, R. M., 05.2024, In: GENET MED. 26, 5, 101101.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review