Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2024

  2. 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

  3. 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

  4. 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. e13239

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. 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

  6. 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

  7. 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. 110470

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 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. 575

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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. 109983

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  15. 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. 104284

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. 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.e11

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. 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. 6237

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 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. 101620

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. 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

  20. 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. 360

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. 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. 16032

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. 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

  23. 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. 45

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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. 106014

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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. e0302382

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. 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

  36. 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

  37. 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. 197

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. 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. 83

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  39. 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. 93

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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. e30910

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. 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

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