Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2021

  2. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

    Gonzalez Melo, M., Remacle, N., Cudré-Cung, H-P., Roux, C., Poms, M., Cudalbu, C., Barroso, M., Gersting, S. W., Feichtinger, R. G., Mayr, J. A., Costanzo, M., Caterino, M., Ruoppolo, M., Rüfenacht, V., Häberle, J., Braissant, O. & Ballhausen, D., 06.2021, In: MOL GENET METAB. 133, 2, p. 157-181 25 p.

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

  3. Third Trimester Umbilical Artery Doppler in Low-Risk Pregnancies and its Correlation to Estimated Fetal Weight and Birthweight

    Sirico, A., Diemert, A., Glosemeyer, P. & Hecher, K., 06.2021, In: ULTRASCHALL MED. 42, 3, p. 285-290 6 p.

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

  4. UDP-GlcNAc-1-phosphotransferase is a clinically important regulator of human and mouse hair pigmentation

    Tiede, S., Hundt, J. & Paus, R., 06.2021, In: J INVEST DERMATOL.

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

  5. HEV-Associated Neuralgic Amyotrophy : A Multicentric Case Series

    Bannasch, J. H., Berger, B., Schwartkopp, C-P., Berning, M., Goetze, O., Panning, M., Fritz-Weltin, M., Trendelenburg, G., Gelderblom, M., Lütgehetmann, M., Stute, F., Horvatits, T., Dirks, M., Antoni, C., Behrendt, P. & Pischke, S., 30.05.2021, In: PATHOGENS. 10, 6, 672.

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

  6. Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis

    Schneeberger, P. E., Nampoothiri, S., Holling, T., Yesodharan, D., Alawi, M., Knisely, A. S., Müller, T., Plecko, B., Janecke, A. R. & Kutsche, K., 26.05.2021, In: BRAIN. 2021, awab206

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

  7. Brahma-related gene 1 has time-specific roles during brain and eye development

    Holdhof, D., Schoof, M., Neyazi, S., Spohn, M., Kresbach, C., Göbel, C., Hellwig, M., Indenbirken, D., Moreno, N., Kerl, K. & Schüller, U., 21.05.2021, In: DEVELOPMENT. 148, 10, dev196147.

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

  8. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90

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

  9. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227

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

  10. Effects of Educational Video on Pre-operative Anxiety in Children - A Randomized Controlled Trial

    Härter, V., Barkmann, C., Wiessner, C., Rupprecht, M., Reinshagen, K. & Trah, J., 12.05.2021, In: FRONT PEDIATR. 9, p. 640236

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

  11. Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

    Gissen, P., Specchio, N., Olaye, A., Jain, M., Butt, T., Ghosh, W., Ruban-Fell, B., Griffiths, A., Camp, C., Sisic, Z., Schwering, C., Wibbeler, E., Trivisano, M., Lee, L., Nickel, M., Mortensen, A. & Schulz, A., 12.05.2021, In: ORPHANET J RARE DIS. 16, 1, 217.

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

  12. Acceleration of TAA-Induced Liver Fibrosis by Stress Exposure Is Associated with Upregulation of Nerve Growth Factor and Glycopattern Deviations

    Atorrasagasti, C., Piccioni, F., Borowski, S., Tirado-González, I., Freitag, N., Cantero, M. J., Bayo, J., Mazzolini, G., Alaniz, L. D., Blois, S. M. & Garcia, M. G., 11.05.2021, In: INT J MOL SCI. 22, 10, 5055.

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

  13. Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life

    Boettcher, J., Boettcher, M., Wiegand-Grefe, S. & Zapf, H., 08.05.2021, In: INT J ENV RES PUB HE. 18, 9, p. 4993

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

  14. EBF3 Neurodevelopmental Disorder

    Narayanan, D. L., Kutsche, K. & Girisha, K. M., 06.05.2021, GeneReviews®. 1 ed. Seattle: University of Washington, Seattle, Vol. 1993-2021. p. 1-9 9 p. (GeneReviews® [Internet]).

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review

  15. Autism-associated SHANK3 missense point mutations impact conformational fluctuations and protein turnover at synapses

    Bucher, M., Niebling, S., Han, Y., Molodenskiy, D., Hassani Nia, F., Kreienkamp, H-J., Svergun, D., Kim, E., Kostyukova, A. S., Kreutz, M. R. & Mikhaylova, M., 04.05.2021, In: ELIFE. 10

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

  16. Neuronal metabotropic glutamate receptor 8 protects against neurodegeneration in CNS inflammation

    Woo, M. S., Ufer, F., Rothammer, N., Di Liberto, G., Binkle, L., Haferkamp, U., Sonner, J. K., Engler, J. B., Hornig, S., Bauer, S., Wagner, I., Egervari, K., Raber, J., Duvoisin, R. M., Pless, O., Merkler, D. & Friese, M. A., 03.05.2021, In: J EXP MED. 218, 5, e20201290.

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

  17. Second malignancies after treatment of childhood non-Hodgkin lymphoma: a report of the Berlin-Frankfurt-Muenster study group

    Moser, O., Zimmermann, M., Meyer, U., Klapper, W., Oschlies, I., Schrappe, M., Attarbaschi, A., Mann, G., Niggli, F., Spix, C., Kontny, U., Klingebiel, T., Reiter, A., Burkhardt, B. & Woessmann, W., 01.05.2021, In: HAEMATOLOGICA. 106, 5, p. 1390-1400 11 p.

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

  18. Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y

    Cossel, K. V., Muschol, N., Friedrich, R. E., Glatzel, M., Ammer, L., Lohmöller, B., Bendszus, M., Mautner, V-F. & Godel, T., 05.2021, In: MUSCLE NERVE. 63, 5, p. 745-750 6 p.

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

  19. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series

    Wibbeler, E., Wang, R., Reyes, E. D. L., Specchio, N., Gissen, P., Guelbert, N., Nickel, M., Schwering, C., Lehwald, L., Trivisano, M., Lee, L., Amato, G., Cohen-Pfeffer, J., Shediac, R., Leal-Pardinas, F. & Schulz, A., 05.2021, In: J CHILD NEUROL. 36, 6, p. 468-474 7 p.

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

  20. Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study

    Steinacker, P., Feneberg, E., Halbgebauer, S., Witzel, S., Verde, F., Oeckl, P., Van Damme, P., Gaur, N., Gray, E., Grosskreutz, J., Jardel, C. G., Kachanov, M., Kuhle, J., Lamari, F., Maceski, A., Del Mar Amador, M., Mayer, B., Morelli, C., Petri, S., Poesen, K., Raaphorst, J., Salachas, F., Silani, V., Turner, M. R., Verbeek, M. M., Volk, A. E., Weishaupt, J. H., Weydt, P., Ludolph, A. C. & Otto, M., 05.2021, In: AMYOTROPH LAT SCL FR. 22, 3-4, p. 276-286 11 p.

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

  21. Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li-Fraumeni syndrome

    Winter, G., Kirschner-Schwabe, R., Groeneveld-Krentz, S., Escherich, G., Möricke, A., von Stackelberg, A., Stanulla, M., Bailey, S., Richter, L., Steinemann, D., Ripperger, T., Escudero, A., Farah, R., Lohi, O., Wadt, K., Jongmans, M., van Engelen, N., Eckert, C. & Kratz, C. P., 05.2021, In: LEUKEMIA. 35, 5, p. 1475-1479 5 p.

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

  22. Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study

    Liu, A. P. Y., Li, B. K., Pfaff, E., Gudenas, B., Vasiljevic, A., Orr, B. A., Dufour, C., Snuderl, M., Karajannis, M. A., Rosenblum, M. K., Hwang, E. I., Ng, H-K., Hansford, J. R., Szathmari, A., Faure-Conter, C., Merchant, T. E., Levine, M., Bouvier, N., von Hoff, K., Mynarek, M., Rutkowski, S., Sahm, F., Kool, M., Hawkins, C., Onar-Thomas, A., Robinson, G. W., Gajjar, A., Pfister, S. M., Bouffet, E., Northcott, P. A., Jones, D. T. W. & Huang, A., 05.2021, In: ACTA NEUROPATHOL. 141, 5, p. 771-785 15 p.

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

  23. Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome

    Weber, L. T., Tönshoff, B., Grenda, R., Bouts, A., Topaloglu, R., Gülhan, B., Printza, N., Awan, A., Battelino, N., Ehren, R., Hoyer, P. F., Novljan, G., Marks, S. D., Oh, J., Prytula, A., Seeman, T., Sweeney, C., Dello Strologo, L. & Pape, L., 05.2021, In: PEDIATR TRANSPLANT. 25, 3, p. e13955

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

  24. DNA Polymerase and Mismatch Repair Exert Distinct Microsatellite Instability Signatures in Normal and Malignant Human Cells

    Chung, J., Maruvka, Y. E., Sudhaman, S., Kelly, J., Haradhvala, N. J., Bianchi, V., Edwards, M., Forster, V. J., Nunes, N. M., Galati, M. A., Komosa, M., Deshmukh, S., Cabric, V., Davidson, S., Zatzman, M., Light, N., Hayes, R., Brunga, L., Anderson, N. D., Ho, B., Hodel, K. P., Siddaway, R., Morrissy, A. S., Bowers, D. C., Larouche, V., Bronsema, A., Osborn, M., Cole, K. A., Opocher, E., Mason, G., Thomas, G. A., George, B., Ziegler, D. S., Lindhorst, S., Vanan, M., Yalon-Oren, M., Reddy, A. T., Massimino, M., Tomboc, P., Van Damme, A., Lossos, A., Durno, C., Aronson, M., Morgenstern, D. A., Bouffet, E., Huang, A., Taylor, M. D., Villani, A., Malkin, D., Hawkins, C. E., Pursell, Z. F., Shlien, A., Kunkel, T. A., Getz, G. & Tabori, U., 05.2021, In: CANCER DISCOV. 11, 5, p. 1176-1191 16 p.

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

  25. Hebammenrelevante Entwicklungen zur elektronischen Patientenakte – ein Bericht der AG „Digitalisierung“.

    Agricola, C. J., Mattern, E., Vogel, K., Peters, M. & Jahn-Zöhrens, U., 05.2021, In: Zeitschrift für Hebammenwissenschaft. 9, 01, p. 6-7

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

  26. Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study

    Märtner, E. M. C., Maier, E. M., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Santer, R., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer-Seifert, J., Lenz, D., Hoffmann, G. F., Mühlhausen, C., Ensenauer, R., Garbade, S. F., Kölker, S. & Boy, N., 05.2021, In: J INHERIT METAB DIS. 44, 3, p. 629-638 10 p.

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

  27. Intestinal CD8+ T cell responses are abundantly induced early in human development but show impaired cytotoxic effector capacities

    Schreurs, R. R. C. E., Sagebiel, A. F., Steinert, F. L., Highton, A. J., Klarenbeek, P. L., Drewniak, A., Bakx, R., The, S. M. L., Ribeiro, C. M. S., Perez, D., Reinshagen, K., Geijtenbeek, T. B. H., van Goudoever, J. B. & Bunders, M. J., 05.2021, In: MUCOSAL IMMUNOL. 14, 3, p. 605-614 10 p.

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

  28. Intrauterine fetoscopic laser surgery versus expectant management in stage 1 twin-to-twin transfusion syndrome: an international randomized trial

    Stirnemann, J., Slaghekke, F., Khalek, N., Winer, N., Johnson, A., Lewi, L., Massoud, M., Bussieres, L., Aegerter, P., Hecher, K., Senat, M-V. & Ville, Y., 05.2021, In: AM J OBSTET GYNECOL. 224, 5, p. 528.e1-528.e12

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

  29. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization

    Pan, Y. E., Tibbe, D., Harms, F. L., Reißner, C., Becker, K., Dingmann, B., Mirzaa, G., Kattentidt-Mouravieva, A. A., Shoukier, M., Aggarwal, S., Missler, M., Kutsche, K. & Kreienkamp, H-J., 05.2021, In: J NEUROCHEM. 157, 4, p. 1331-1350 20 p.

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

  30. TFEB-deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality

    Sass, F., Schlein, C., Jaeckstein, M. Y., Pertzborn, P., Schweizer, M., Schinke, T., Ballabio, A., Scheja, L., Heeren, J. & Fischer, A. W., 05.2021, In: MOL METAB. 47, p. 101173

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

  31. Integrative genomic analysis of pediatric T- cell lymphoblastic lymphoma reveals candidates of clinical significance

    Khanam, T., Sandmann, S., Seggewiss, J., Ruether, C. M., Zimmermann, M., Norvil, A. B., Bartenhagen, C., Randau, G., Mueller, S., Herbrüggen, H., Hoffmann, P., Herms, S., Wei, L., Wöste, M., Wünsch, C., Gowher, H., Oschlies, I., Klapper, W., Woessmann, W., Dugas, M. & Burkhardt, B., 29.04.2021, In: BLOOD. 137, 17, p. 2347-2359 13 p.

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

  32. Treatment and Outcome Analysis of 639 Relapsed Non-Hodgkin Lymphomas in Children and Adolescents and Resulting Treatment Recommendations

    Burkhardt, B., Taj, M., Garnier, N., Minard-Colin, V., Hazar, V., Mellgren, K., Osumi, T., Fedorova, A., Myakova, N., Verdu-Amoros, J., Andres, M., Kabickova, E., Attarbaschi, A., Chiang, A. K. S., Bubanska, E., Donska, S., Hjalgrim, L. L., Wachowiak, J., Pieczonka, A., Uyttebroeck, A., Lazic, J., Loeffen, J., Buechner, J., Niggli, F., Csoka, M., Krivan, G., Palma, J., Burke, G. A. A., Beishuizen, A., Koeppen, K., Mueller, S., Herbrueggen, H., Woessmann, W., Zimmermann, M., Balduzzi, A. & Pillon, M., 25.04.2021, In: CANCERS. 13, 9, 2075.

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

  33. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

    Mole, S. E., Schulz, A., Badoe, E., Berkovic, S. F., de Los Reyes, E. C., Dulz, S., Gissen, P., Guelbert, N., Lourenco, C. M., Mason, H. L., Mink, J. W., Murphy, N., Nickel, M., Olaya, J. E., Scarpa, M., Scheffer, I. E., Simonati, A., Specchio, N., Von Löbbecke, I., Wang, R. Y. & Williams, R. E., 21.04.2021, In: ORPHANET J RARE DIS. 16, 1, 185.

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

  34. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., CAUSES Study, Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A. & Eichler, E. E., 19.04.2021, In: GENOME MED. 13, 1, p. 63

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

  35. Minimal Disease Monitoring in Pediatric Non-Hodgkin's Lymphoma: Current Clinical Application and Future Challenges

    Mussolin, L., Damm-Welk, C., Pillon, M. & Woessmann, W., 15.04.2021, In: CANCERS. 13, 8, 1907.

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

  36. Erworbener Chylothorax im Säuglingsalter

    Hickmann, D., Maiberger, T., von der Wense, A. & Reinshagen, K., 14.04.2021, In: MONATSSCHR KINDERH.

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

  37. An extracellular vesicle-related gene expression signature identifies high-risk patients in medulloblastoma

    Albert, T. K., Interlandi, M., Sill, M., Graf, M., Moreno, N., Menck, K., Rohlmann, A., Melcher, V., Korbanka, S., Meyer Zu Hörste, G., Lautwein, T., Frühwald, M. C., Krebs, C. F., Holdhof, D., Schoof, M., Bleckmann, A., Missler, M., Dugas, M., Schüller, U., Jäger, N., Pfister, S. M. & Kerl, K., 12.04.2021, In: NEURO-ONCOLOGY. 23, 4, p. 586-598 13 p.

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

  38. The genetic landscape of choroid plexus tumors in children and adults

    Thomas, C., Soschinski, P., Zwaig, M., Oikonomopoulos, S., Okonechnikov, K., Pajtler, K. W., Sill, M., Schweizer, L., Koch, A., Neumann, J., Schüller, U., Sahm, F., Rauschenbach, L., Keyvani, K., Proescholdt, M., Riemenschneider, M. J., Segewiß, J., Ruckert, C., Grauer, O., Monoranu, C-M., Lamszus, K., Patrizi, A., Kordes, U., Siebert, R., Kool, M., Ragoussis, J., Foulkes, W. D., Paulus, W., Rivera, B. & Hasselblatt, M., 12.04.2021, In: NEURO-ONCOLOGY. 23, 4, p. 650-660 11 p.

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

  39. Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series

    Heidepriem, J., Dahlke, C., Kobbe, R., Santer, R., Koch, T., Fathi, A., Seco, B. M. S., Ly, M. L., Schmiedel, S., Schwinge, D., Serna, S., Sellrie, K., Reichardt, N. C., Seeberger, P. H., Addo, M. M., Loeffler, F. F. & ID-UKE COVID-19 study group, 06.04.2021, In: PATHOGENS. 10, 4, 438.

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

  40. Placental Glycoredox Dysregulation Associated with Disease Progression in an Animal Model of Superimposed Preeclampsia

    Blois, S. M., Prince, P. D., Borowski, S., Galleano, M. & Barrientos, G., 03.04.2021, In: CELLS-BASEL. 10, 4, 800.

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

  41. Medizinischer Kinderschutz während des Corona-Lockdowns: Vergleichende Befunde der Kinderschutzfälle aus Kliniken und Ambulanzen in Deutschland

    Heimann, T., Ewert, J. N., Metzner, F., Sigmund, F., Jud, A. & Pawils, S., 02.04.2021, In: MONATSSCHR KINDERH. 169, 4, p. 346-352 7 p.

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

  42. SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic leukemia with diverse genetic presentation and variable outcome

    Schwab, C. J., Roberts, K. G., Boer, J. M., Gohring, G., Steinemann, D., Vora, A., Macartney, C., Hough, R. E., Thorn, Z., Dillon, R., Escherich, G., Cazzaniga, G., Schlegelberger, B., Loh, M. L., Den Boer, M. L., Moorman, A. V. & Harrison, C. J., 01.04.2021, In: BLOOD. 137, 13, p. 1835-1838 4 p.

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

  43. Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data

    Stichel, D., Schrimpf, D., Sievers, P., Reinhardt, A., Suwala, A. K., Sill, M., Reuss, D. E., Korshunov, A., Casalini, B. M., Sommerkamp, A. C., Ecker, J., Selt, F., Sturm, D., Gnekow, A., Koch, A., Simon, M., Hernáiz Driever, P., Schüller, U., Capper, D., van Tilburg, C. M., Witt, O., Milde, T., Pfister, S. M., Jones, D. T. W., von Deimling, A., Sahm, F. & Wefers, A. K., 04.2021, In: NEUROPATH APPL NEURO. 47, 3, p. 406-414 9 p.

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

  44. Auswirkungen der COVID-19 Pandemie auf die medizinische Versorgung von Patienten mit angeborenen Blutungsneigungen

    Olivieri, M., Halimeh, S., Wermes, C., Hassenpflug, W., Holstein, K. & von Mackensen, S., 04.2021, In: GESUNDHEITSWESEN. 83, 4, p. 282-290 9 p.

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

  45. Correction to: Mutations within FGFR1 are associated with superior outcome in a series of 83 diffuse midline gliomas with H3F3A K27M mutations

    Schüller, U., Iglauer, P., Dorostkar, M. M., Mawrin, C., Herms, J., Giese, A., Glatzel, M. & Neumann, J. E., 04.2021, In: ACTA NEUROPATHOL. 141, 4, p. 627

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

  46. Current understandings in treating children with steroid-resistant nephrotic syndrome

    Lee, J. M., Kronbichler, A., Shin, J. I. & Oh, J., 04.2021, In: PEDIATR NEPHROL. 36, 4, p. 747-761 15 p.

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

  47. Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

    Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A. & van Spronsen, F. J., 04.2021, In: MOL GENET METAB. 132, 4, p. 215-219 5 p.

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

  48. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

    Li, D., Strong, A., Shen, K. M., Cassiman, D., Van Dyck, M., Linhares, N. D., Valadares, E. R., Wang, T., Pena, S. D. J., Jaeken, J., Vergano, S., Zackai, E., Hing, A., Chow, P., Ganguly, A., Scholz, T., Bierhals, T., Deindl, P., Hakonarson, H. & Bhoj, E., 04.2021, In: GENET MED. 23, 4, p. 637-644 8 p.

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

  49. Human epithelial stem cell survival within their niche requires "tonic" cannabinoid receptor 1-signalling-Lessons from the hair follicle

    Sugawara, K., Zákány, N., Tiede, S., Purba, T., Harries, M., Tsuruta, D., Bíró, T. & Paus, R., 04.2021, In: EXP DERMATOL. 30, 4, p. 479-493 15 p.

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

  50. Morphological and molecular breast cancer profiling through explainable machine learning

    Binder, A., Bockmayr, M., Hägele, M., Wienert, S., Heim, D., Hellweg, K., Ishii, M., Stenzinger, A., Hocke, A., Denkert, C., Müller, K. R. & Klauschen, F., 04.2021, In: NAT MACH INTELL. 3, 4, p. 355-366 12 p.

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

  51. Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome

    Schröder, H., Junge, N., Herden, U., Deutschmann, A., Weidemann, S. A., Krebs-Schmitt, D. & Grabhorn, E. F., 04.2021, In: CLIN TRANSPLANT. 35, 4, e14219.

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

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