Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2021

  2. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

    Zhang, Y., Tachtsidis, G., Schob, C., Koko, M., Hedrich, U. B. S., Lerche, H., Lemke, J. R., van Haeringen, A., Ruivenkamp, C., Prescott, T., Tveten, K., Gerstner, T., Pruniski, B., DiTroia, S., VanNoy, G. E., Rehm, H. L., McLaughlin, H., Bolz, H. J., Zechner, U., Bryant, E., McDonough, T., Kindler, S. & Bähring, R., 16.11.2021, In: HUM MOL GENET. 30, 23, p. 2300-2314 15 p.

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

  3. Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

    Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.

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

  4. Insights into diastolic function analyses using cardiac magnetic resonance imaging: impact of trabeculae and papillary muscles

    Schoennagel, B. P., Müllerleile, K., Tahir, E., Starekova, J., Grosse, R., Yamamura, J., Bannas, P., Adam, G. & Fischer, R., 03.11.2021, In: INSIGHTS IMAGING. 12, 1, 159.

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

  5. Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome

    Guerrero-Castillo, S., van Strien, J., Brandt, U. & Arnold, S., 02.11.2021, In: EMBO J. 40, 21, p. e108648

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

  6. Datenerfassungen im Kinderschutz – essenzieller Bestandteil zum besseren Verständnis der Thematik

    Heimann, T., Ewert, J., Metzner, F., Sigmund, F., Jud, A. & Pawils, S., 02.11.2021, In: MONATSSCHR KINDERH. 169, p. 1090-1092 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  7. No Evidence to Favor 99mTc-HMPAO or 99mTc-ECD for Ictal Brain Perfusion SPECT for Identification of the Seizure Onset Zone

    Jaber, M., Taherpour, J., Voges, B., Apostolova, I., Sauvigny, T., House, P. M., Lanz, M., Lindenau, M., Klutmann, S., Martens, T., Stodieck, S. & Buchert, R., 01.11.2021, In: CLIN NUCL MED. 46, 11, p. 890-895 6 p.

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

  8. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

    Emma, F., Hoff, W. V., Hohenfellner, K., Topaloglu, R., Greco, M., Ariceta, G., Bettini, C., Bockenhauer, D., Veys, K., Pape, L., Hulton, S., Collin, S., Ozaltin, F., Servais, A., Deschênes, G., Novo, R., Bertholet-Thomas, A., Oh, J., Cornelissen, E., Janssen, M., Haffner, D., Ravà, L., Antignac, C., Devuyst, O., Niaudet, P. & Levtchenko, E., 11.2021, In: KIDNEY INT. 100, 5, p. 1112-1123 12 p.

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

  9. Case Report: True Thymic Hyperplasia in a 30-Day-Old Boy

    Mokhaberi, N., Woessmann, W., Schäfer, H., Blohm, M., Groth, M. & Reinshagen, K., 11.2021, In: KLIN PADIATR. 233, 6, p. 299-302 4 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  10. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

    Schob, C., Hempel, M., Brozkova, D. S., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Meszarosova, A. U., Chae, J-H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S. & Denecke, J., 11.2021, In: ANN NEUROL. 90, 5, p. 738-750 13 p.

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

  11. EXTH-70. ESTABLISHMENT OF INTRAVENTRICULAR SHH INHIBITION AS A THERAPEUTIC OPTION IN YOUNG PATIENTS WITH MEDULLOBLASTOMA

    Kresbach, C., Schoof, M., Leven, T., Holst, L., Yorgan, T. A., Wrzeszcz, A., Rutkowski, S. J. & Schüller, U., 11.2021, In: NEURO-ONCOLOGY. 23, Supplement_6, p. vi179

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  12. Fetal cerebral blood-flow redistribution: analysis of Doppler reference charts and association of different thresholds with adverse perinatal outcome

    Wolf, H., Stampalija, T., Lees, C. C. & TRUFFLE Group, 11.2021, In: ULTRASOUND OBST GYN. 58, 5, p. 705-715 11 p.

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

  13. Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

    Bortnick, R., Wlodarski, M., de Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Masetti, R., Starý, J., Turkiewicz, D., Ussowicz, M., Kozyra, E., Albert, M., Bader, P., Bordon, V., Cario, G., Beier, R., Schulte, J., Bresters, D., Müller, I., Pichler, H., Sedlacek, P., Sauer, M. G., Zecca, M., Göhring, G., Yoshimi, A., Noellke, P., Erlacher, M., Locatelli, F., Niemeyer, C. M. & Strahm, B., 11.2021, In: BONE MARROW TRANSPL. 56, 11, p. 2732-2741 10 p.

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

  14. Hemoconcentration and predictors in Shiga toxin-producing E. coli-hemolytic uremic syndrome (STEC-HUS)

    Loos, S., Oh, J., Loo, L. V. D., Kemper, M. J., Blohm, M. & Schild, R., 11.2021, In: PEDIATR NEPHROL. 36, 11, p. 3777-3783 7 p.

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

  15. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

    Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppänen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S. & European Society for Immunodeficiencies Registry Working Party, 11.2021, In: J ALLERGY CLIN IMMUN. 148, 5, p. 1332-1341.e5 10 p.

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

  16. Molecular features of non-anaplastic peripheral T-cell lymphoma in children and adolescents

    Au-Yeung, R. K. H., Richter, J., Iaccarino, I., Abramov, D., Bacon, C. M., Balagué, O., d'Amore, E. S. G., Simonitsch-Klupp, I., Hebeda, K., Nakazawa, A., Oschlies, I., Kontny, U., Woessmann, W., Burkhardt, B. & Klapper, W., 11.2021, In: PEDIATR BLOOD CANCER. 68, 11, e29285.

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

  17. Molecular profiling of pediatric meningiomas shows tumor characteristics distinct from adult meningiomas

    Kirches, E., Sahm, F., Korshunov, A., Bluecher, C., Waldt, N., Kropf, S., Schrimpf, D., Sievers, P., Stichel, D., Schüller, U., Schittenhelm, J., Riemenschneider, M. J., Karajannis, M. A., Perry, A., Pietsch, T., Boekhoff, S., Capper, D., Beck, K., Paramasivam, N., Schlesner, M., Brastianos, P. K., Müller, H. L., Pfister, S. M. & Mawrin, C., 11.2021, In: ACTA NEUROPATHOL. 142, 5, p. 873-886 14 p.

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

  18. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

    Schlingmann, K. P., Jouret, F., Shen, K., Nigam, A., Arjona, F. J., Dafinger, C., Houillier, P., Jones, D. P., Kleinerüschkamp, F., Oh, J., Godefroid, N., Eltan, M., Güran, T., Burtey, S., Parotte, M-C., König, J., Braun, A., Bos, C., Ibars Serra, M., Rehmann, H., Zwartkruis, F. J. T., Renkema, K. Y., Klingel, K., Schulze-Bahr, E., Schermer, B., Bergmann, C., Altmüller, J., Thiele, H., Beck, B. B., Dahan, K., Sabatini, D., Liebau, M. C., Vargas-Poussou, R., Knoers, N. V. A. M., Konrad, M. & de Baaij, J. H. F., 11.2021, In: J AM SOC NEPHROL. 32, 11, p. 2885-2899 15 p.

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

  19. Recommendations for Diagnosis and Treatment of Children with Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia in Down Syndrome (ML-DS)

    Al-Kershi, S., Golnik, R., Flasinski, M., Waack, K., Rasche, M., Creutzig, U., Dworzak, M., Reinhardt, D. & Klusmann, J-H., 11.2021, In: KLIN PADIATR. 233, 6, p. 267-277 11 p.

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

  20. Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

    Sievers, P., Henneken, S. C., Blume, C., Sill, M., Schrimpf, D., Stichel, D., Okonechnikov, K., Reuss, D. E., Benzel, J., Maaß, K. K., Kool, M., Sturm, D., Zheng, T., Ghasemi, D. R., Kohlhof-Meinecke, P., Cruz, O., Suñol, M., Lavarino, C., Ruf, V., Boldt, H. B., Pagès, M., Pouget, C., Schweizer, L., Kranendonk, M. E. G., Akhtar, N., Bunkowski, S., Stadelmann, C., Schüller, U., Mueller, W. C., Dohmen, H., Acker, T., Harter, P. N., Mawrin, C., Beschorner, R., Brandner, S., Snuderl, M., Abdullaev, Z., Aldape, K., Gilbert, M. R., Armstrong, T. S., Ellison, D. W., Capper, D., Ichimura, K., Reifenberger, G., Grundy, R. G., Jabado, N., Krskova, L., Zapotocky, M., Vicha, A., Varlet, P., Wesseling, P., Rutkowski, S., Korshunov, A., Wick, W., Pfister, S. M., Jones, D. T. W., von Deimling, A., Pajtler, K. W. & Sahm, F., 11.2021, In: ACTA NEUROPATHOL. 142, 5, p. 827-839 13 p.

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

  21. Second Paediatric Strategy Forum for anaplastic lymphoma kinase (ALK) inhibition in paediatric malignancies: ACCELERATE in collaboration with the European Medicines Agency with the participation of the Food and Drug Administration

    Pearson, A. D. J., Barry, E., Mossé, Y. P., Ligas, F., Bird, N., de Rojas, T., Zimmerman, Z. F., Wilner, K., Woessmann, W., Weiner, S., Weigel, B., Venkatramani, R., Valteau, D., Trahair, T., Smith, M., Singh, S., Selvaggi, G., Scobie, N., Schleiermacher, G., Richardson, N., Park, J., Nysom, K., Norga, K., Merino, M., McDonough, J., Matloub, Y., Marshall, L. V., Lowe, E., Lesa, G., Irwin, M., Karres, D., Gajjar, A., Doz, F., Fox, E., DuBois, S. G., Donoghue, M., Casanova, M., Caron, H., Buenger, V., Bradford, D., Blanc, P., Barone, A., Reaman, G. & Vassal, G., 11.2021, In: EUR J CANCER. 157, p. 198-213 16 p.

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

  22. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

    Zielen, S., Duecker, R. P., Woelke, S., Donath, H., Bakhtiar, S., Buecker, A., Kreyenberg, H., Huenecke, S., Bader, P., Mahlaoui, N., Ehl, S., El-Helou, S. M., Pietrucha, B., Plebani, A., van der Flier, M., van Aerde, K., Kilic, S. S., Reda, S. M., Kostyuchenko, L., McDermott, E., Galal, N., Pignata, C., Pérez, J. L. S., Laws, H-J., Niehues, T., Kutukculer, N., Seidel, M. G., Marques, L., Ciznar, P., Edgar, J. D. M., Soler-Palacín, P., von Bernuth, H., Krueger, R., Meyts, I., Baumann, U., Kanariou, M., Grimbacher, B., Hauck, F., Graf, D., Granado, L. I. G., Prader, S., Reisli, I., Slatter, M., Rodríguez-Gallego, C., Arkwright, P. D., Bethune, C., Deripapa, E., Sharapova, S. O., Lehmberg, K., Davies, E. G., Schuetz, C., Kindle, G. & Schubert, R., 11.2021, In: J CLIN IMMUNOL. 41, 8, p. 1878-1892 15 p.

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

  23. Systemic chemotherapy of pediatric recurrent ependymomas: results from the German HIT-REZ studies

    Adolph, J. E., Fleischhack, G., Gaab, C., Mikasch, R., Mynarek, M., Rutkowski, S., Schüller, U., Pfister, S. M., Pajtler, K. W., Milde, T., Witt, O., Bison, B., Warmuth-Metz, M., Kortmann, R-D., Dietzsch, S., Pietsch, T., Timmermann, B., Tippelt, S. & German GPOH HIT-Network, 11.2021, In: J NEURO-ONCOL. 155, 2, p. 193-202 10 p.

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

  24. The Golgi-Associated PDZ Domain Protein Gopc/PIST Is Required for Synaptic Targeting of mGluR5.

    Klüssendorf, M., Song, I., Schau, L., Morellini, F., Dityatev, A., Koliwer, J. & Kreienkamp, H-J., 11.2021, In: MOL NEUROBIOL. 58, 11, p. 5618–5634 17 p.

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

  25. The H3.3K27M oncohistone affects replication stress outcome and provokes genomic instability in pediatric glioma

    Bočkaj, I., Martini, T. E. I., de Camargo Magalhães, E. S., Bakker, P. L., Meeuwsen-de Boer, T. G. J., Armandari, I., Meuleman, S. L., Mondria, M. T., Stok, C., Kok, Y. P., Bakker, B., Wardenaar, R., Seiler, J., Broekhuis, M. J. C., van den Bos, H., Spierings, D. C. J., Ringnalda, F. C. A., Clevers, H., Schüller, U., van Vugt, M. A. T. M., Foijer, F. & Bruggeman, S. W. M., 11.2021, In: PLOS GENET. 17, 11, e1009868.

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

  26. The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets

    van Tilburg, C. M., Pfaff, E., Pajtler, K. W., Langenberg, K. P. S., Fiesel, P., Jones, B. C., Balasubramanian, G. P., Stark, S., Johann, P. D., Blattner-Johnson, M., Schramm, K., Dikow, N., Hirsch, S., Sutter, C., Grund, K., von Stackelberg, A., Kulozik, A. E., Lissat, A., Borkhardt, A., Meisel, R., Reinhardt, D., Klusmann, J-H., Fleischhack, G., Tippelt, S., von Schweinitz, D., Schmid, I., Kramm, C. M., von Bueren, A. O., Calaminus, G., Vorwerk, P., Graf, N., Westermann, F., Fischer, M., Eggert, A., Burkhardt, B., Wößmann, W., Nathrath, M., Hecker-Nolting, S., Frühwald, M. C., Schneider, D. T., Brecht, I. B., Ketteler, P., Fulda, S., Koscielniak, E., Meister, M. T., Scheer, M., Hettmer, S., Schwab, M., Tremmel, R., Øra, I., Hutter, C., Gerber, N. U., Lohi, O., Kazanowska, B., Kattamis, A., Filippidou, M., Goemans, B., Zwaan, C. M., Milde, T., Jäger, N., Wolf, S., Reuss, D., Sahm, F., von Deimling, A., Dirksen, U., Freitag, A., Witt, R., Lichter, P., Kopp-Schneider, A., Jones, D. T. W., Molenaar, J. J., Capper, D., Pfister, S. M. & Witt, O., 11.2021, In: CANCER DISCOV. 11, 11, p. 2764-2779 16 p.

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

  27. Pediatric Hypothermia: An Ambiguous Issue

    Singer, D., 31.10.2021, In: INT J ENV RES PUB HE. 18, 21, 11484.

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

  28. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

    Saffari, A., Cannet, C., Blaschek, A., Hahn, A., Hoffmann, G. F., Johannsen, J., Kirsten, R., Kockaya, M., Kölker, S., Müller-Felber, W., Roos, A., Schäfer, H., Schara, U., Spraul, M., Trefz, F. K., Vill, K., Wick, W., Weiler, M., Okun, J. G. & Ziegler, A., 20.10.2021, In: ORPHANET J RARE DIS. 16, 1, 441.

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

  29. Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

    Blomen, C. L., Pott, A., Volk, A. E., Budäus, L. & Witzel, I., 11.10.2021, In: SCI REP-UK. 11, 1, p. 20178

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

  30. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

    Soldati, C., Lopez-Fabuel, I., Wanderlingh, L. G., Garcia-Macia, M., Monfregola, J., Esposito, A., Napolitano, G., Guevara-Ferrer, M., Scotto Rosato, A., Krogsaeter, E. K., Paquet, D., Grimm, C. M., Montefusco, S., Braulke, T., Storch, S., Mole, S. E., De Matteis, M. A., Ballabio, A., Sampaio, J. L., McKay, T., Johannes, L., Bolaños, J. P. & Medina, D. L., 07.10.2021, In: EMBO MOL MED. 13, 10, e13742.

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

  31. Recommendations for Age-Appropriate Testing, Timing, and Frequency of Audiologic Monitoring During Childhood Cancer Treatment: An International Society of Paediatric Oncology Supportive Care Consensus Report

    Meijer, A. J. M., van den Heuvel-Eibrink, M. M., Brooks, B., Am Zehnhoff-Dinnesen, A. G., Knight, K. R., Freyer, D. R., Chang, K. W., Hero, B., Papadakis, V., Frazier, A. L., Blattmann, C., Windsor, R., Morland, B., Bouffet, E., Rutkowski, S., Tytgat, G. A. M., Geller, J. I., Hunter, L. L., Sung, L., Calaminus, G., Carleton, B. C., Helleman, H. W., Foster, J. H., Kruger, M., Cohn, R. J., Landier, W., van Grotel, M., Brock, P. R., Hoetink, A. E., Rajput, K. M. & Society of Paediatric Oncology Supportive Care Committee, 01.10.2021, In: JAMA ONCOL. 7, 10, p. 1550-1558 9 p.

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

  32. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.

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

  33. Cauda equina paragangliomas express HOXB13

    Bockmayr, M., Körner, M., Schweizer, L. & Schüller, U., 10.2021, In: NEUROPATH APPL NEURO. 47, 6, p. 889-890 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  34. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

    Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Starý, J., Locatelli, F., Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kállay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Müller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Göhring, G., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W. & European Working Group of MDS in Children (EWOG-MDS), 10.2021, In: NAT MED. 27, 10, p. 1806-1817 12 p.

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

  35. Clinico-genetic findings in 509 frontotemporal dementia patients

    Wagner, M., Lorenz, G., Volk, A. E., Brunet, T., Edbauer, D., Berutti, R., Zhao, C., Anderl-Straub, S., Bertram, L., Danek, A., Deschauer, M., Dill, V., Fassbender, K., Fliessbach, K., Götze, K. S., Jahn, H., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Obrig, H., Prudlo, J., Schneider, A., Schroeter, M. L., Uttner, I., Vukovich, R., Wiltfang, J., Winkler, A. S., Zhou, Q., Ludolph, A. C., German FTLD Consortium, Oexle, K., Otto, M., Diehl-Schmid, J. & Winkelmann, J., 10.2021, In: MOL PSYCHIATR. 26, 10, p. 5824-5832 9 p.

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

  36. Commentary on "Pediatric Idiopathic Steroid-sensitive Nephrotic Syndrome Diagnosis and Therapy - Short version of the updated German Best Practice Guideline (S2e)"

    Ehren, R., Benz, M. R., Brinkkötter, P. T., Dötsch, J., Eberl, W. R., Gellermann, J., Hoyer, P. F., Jordans, I., Kamrath, C., Kemper, M. J., Latta, K., Müller, D., Oh, J., Tönshoff, B., Weber, S., Weber, L. T. & German Society of Pediatric Nephrology, 10.2021, In: PEDIATR NEPHROL. 36, 10, p. 2961-2966 6 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  37. Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

    Melo, U. S., Piard, J., Fischer-Zirnsak, B., Klever, M-K., Schöpflin, R., Mensah, M. A., Holtgrewe, M., Arbez-Gindre, F., Martin, A., Guigue, V., Gaillard, D., Landais, E., Roze, V., Kremer, V., Ramanah, R., Cabrol, C., Harms, F. L., Kornak, U., Spielmann, M., Mundlos, S. & Van Maldergem, L., 10.2021, In: HUM GENET. 140, 10, p. 1459-1469 11 p.

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

  38. COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

    ISARIC Characterization Group, 10.2021, In: INFECTION. 49, 5, p. 889-905 17 p.

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

  39. Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

    Frühwald, M. C., Nemes, K., Boztug, H., Cornips, M. C. A., Evans, D. G., Farah, R., Glentis, S., Jorgensen, M., Katsibardi, K., Hirsch, S., Jahnukainen, K., Kventsel, I., Kerl, K., Kratz, C. P., Pajtler, K. W., Kordes, U., Ridola, V., Stutz, E. & Bourdeaut, F., 10.2021, In: FAM CANCER. 20, 4, p. 305-316 12 p.

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

  40. Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6

    Kordes, U., Mautner, V-F., Oyen, F., Hagel, C., Hartmann, C., Heuser, M., Frühwald, M., Hasselblatt, M., Oehl-Huber, K., Siebert, R., Schneppenheim, R. & Schüller, U., 10.2021, In: PEDIATR BLOOD CANCER. 68, 10, p. e29185

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  41. Favorable outcome of NUTM1-rearranged infant and pediatric B cell precursor acute lymphoblastic leukemia in a collaborative international study

    Boer, J. M., Valsecchi, M. G., Hormann, F. M., Antić, Ž., Zaliova, M., Schwab, C., Cazzaniga, G., Arfeuille, C., Cavé, H., Attarbaschi, A., Strehl, S., Escherich, G., Imamura, T., Ohki, K., Grüber, T. A., Sutton, R., Pastorczak, A., Lammens, T., Lambert, F., Li, C. K., Carrillo de Santa Pau, E., Hoffmann, S., Möricke, A., Harrison, C. J., Den Boer, M. L., De Lorenzo, P., Stam, R. W., Bergmann, A. K. & Pieters, R., 10.2021, In: LEUKEMIA. 35, 10, p. 2978-2982 5 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  42. Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group

    Hettmer, S., Dachy, G., Seitz, G., Agaimy, A., Duncan, C., Jongmans, M., Hirsch, S., Kventsel, I., Kordes, U., de Krijger, R. R., Metzler, M., Michaeli, O., Nemes, K., Poluha, A., Ripperger, T., Russo, A., Smetsers, S., Sparber-Sauer, M., Stutz, E., Bourdeaut, F., Kratz, C. P. & Demoulin, J-B., 10.2021, In: FAM CANCER. 20, 4, p. 327-336 10 p.

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

  43. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

    Hashem, H., Bucciol, G., Ozen, S., Unal, S., Bozkaya, I. O., Akarsu, N., Taskinen, M., Koskenvuo, M., Saarela, J., Dimitrova, D., Hickstein, D. D., Hsu, A. P., Holland, S. M., Krance, R., Sasa, G., Kumar, A. R., Müller, I., Abreu de Sousa, M., Delafontaine, S., Moens, L., Babor, F., Barzaghi, F., Cicalese, M. P., Bredius, R., van Montfrans, J., Baretta, V., Cesaro, S., Stepensky, P., Benedicte, N., Moshous, D., Le Guenno, G., Boutboul, D., Dalal, J., Brooks, J. P., Dokmeci, E., Dara, J., Lucas, C. L., Hambleton, S., Wilson, K., Jolles, S., Koc, Y., Güngör, T., Schnider, C., Candotti, F., Steinmann, S., Schulz, A., Chambers, C., Hershfield, M., Ombrello, A., Kanakry, J. A. & Meyts, I., 10.2021, In: J CLIN IMMUNOL. 41, 7, p. 1633-1647 15 p.

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

  44. Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!

    Fröschle, G. M. C., Ebenebe, C. U., Herrmann, J., Denecke, J., Singer, D. & Dabek, M., 10.2021, In: Z GEBURTSH NEONATOL. 225, 5, p. 445-446 2 p.

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

  45. Minimal residual disease, long-term outcome, and IKZF1 deletions in children and adolescents with Down syndrome and acute lymphocytic leukaemia: a matched cohort study

    Michels, N., Boer, J. M., Enshaei, A., Sutton, R., Heyman, M., Ebert, S., Fiocco, M., de Groot-Kruseman, H. A., van der Velden, V. H. J., Barbany, G., Escherich, G., Vora, A., Trahair, T., Dalla-Pozza, L., Pieters, R., Zur Stadt, U., Schmiegelow, K., Moorman, A. V., Zwaan, C. M. & den Boer, M. L., 10.2021, In: LANCET HAEMATOL. 8, 10, p. e700-e710

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

  46. Pediatric idiopathic steroid-sensitive nephrotic syndrome diagnosis and therapy -short version of the updated German best practice guideline (S2e) - AWMF register no. 166-001, 6/2020

    Ehren, R., Benz, M. R., Brinkkötter, P. T., Dötsch, J., Eberl, W. R., Gellermann, J., Hoyer, P. F., Jordans, I., Kamrath, C., Kemper, M. J., Latta, K., Müller, D., Oh, J., Tönshoff, B., Weber, S., Weber, L. T. & German Society of Pediatric Nephrology, 10.2021, In: PEDIATR NEPHROL. 36, 10, p. 2971-2985 15 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  47. Portal venous gas in a girl with chronic intestinal pseudoobstruction

    Elrod, J., Reinshagen, K. & Boettcher, M., 10.2021, In: SURGERY. 170, 4, p. e17-e19 3 p.

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

  48. Primary haemophagocytic lymphohistiocytosis (Chédiak-Higashi Syndrome) triggered by acute SARS-CoV-2 infection in a six-week-old infant

    Lange, M., Linden, T., Müller, H. L., Flasskuehler, M. A., Koester, H., Lehmberg, K., Ledig, S., Ehl, S., Heep, A. & Beske, F., 10.2021, In: BRIT J HAEMATOL. 195, 2, p. 198-200 3 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  49. Quantifying progression in primary progressive aphasia with structural neuroimaging

    Lombardi, J., Mayer, B., Semler, E., Anderl-Straub, S., Uttner, I., Kassubek, J., Diehl-Schmid, J., Danek, A., Levin, J., Fassbender, K., Fliessbach, K., Schneider, A., Huppertz, H-J., Jahn, H., Volk, A., Kornhuber, J., Landwehrmeyer, B., Lauer, M., Prudlo, J., Wiltfang, J., Schroeter, M. L., Ludolph, A., Otto, M. & FTLD consortium, 10.2021, In: ALZHEIMERS DEMENT. 17, 10, p. 1595-1609 15 p.

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

  50. Reference ranges for sphingosine-1-phosphate in neonates

    Ebenebe, C. U., von Lucadou, M., Moritz, E., Schwedhelm, E., Daum, G., Singer, D., Deindl, P. & Winkler, M. S., 27.09.2021, In: J PERINAT MED. 49, 7, p. 932-935 4 p.

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

  51. Iatrogenic Blood Loss in Very Low Birth Weight Infants and Transfusion of Packed Red Blood Cells in a Tertiary Care Neonatal Intensive Care Unit

    Aboalqez, A., Deindl, P., Ebenebe, C. U., Singer, D. & Blohm, M. E., 25.09.2021, In: CHILDREN-BASEL. 8, 10, 847.

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

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