Center for Obstetrics and Pediatrics

Publications

  1. 2019
  2. Retinal hyperreflective foci in Fabry disease

    Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. Primary central nervous system lymphoma: initial features, outcome, and late effects in 75 children and adolescents

    Attarbaschi, A., Abla, O., Ronceray, L., Bansil, S., Bomken, S., Burkhardt, B., Ceppi, F., Chiang, A. K. S., Dave, H., Fedorova, A., Henry, M., Jazbec, J., Kabickova, E., Kotecha, R. S., Lazic, J., Loeffen, J., Miakova, N., Osumi, T., Pillon, M., Pourtsidis, A., Rigaud, C., Tamamyan, G., Tandon, S., Uyttebroeck, A., Verdu-Amoros, J., Woessmann, W., Wrobel, G., Giulino-Roth, L., European Intergrp Childhood Non-Ho, Int Berlin-Frankfurt-Munster Study & Selected North Amer Ctr Pediat Hem, 23.12.2019, In: Blood Adv. 3, 24, p. 4291-4297 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  4. Improving Stratification for Children With Late Bone Marrow B-Cell Acute Lymphoblastic Leukemia Relapses With Refined Response Classification and Integration of Genetics

    Eckert, C., Groeneveld-Krentz, S., Kirschner-Schwabe, R., Hagedorn, N., Chen-Santel, C., Bader, P., Borkhardt, A., Cario, G., Escherich, G., Panzer-Grümayer, R., Astrahantseff, K., Eggert, A., Sramkova, L., Attarbaschi, A., Bourquin, J-P., Peters, C., Henze, G., von Stackelberg, A. & ALL-REZ BFM Trial Group, 20.12.2019, In: J CLIN ONCOL. 37, 36, p. 3493-3506 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma

    Nowak, J., Jünger, S. T., Huflage, H., Seidel, C., Hohm, A., Vandergrift, L. A., von Hoff, K., Rutkowski, S., Pietsch, T. & Warmuth-Metz, M., 19.12.2019, In: CLIN NEURORADIOL. 29, 4, p. 595-604 10 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  6. Hypophosphatasie - eine klinisch und genetisch variable Erkrankung

    Jandl, N. M., Volk, A. E. & Barvencik, F., 12.12.2019, In: MED GENET-BERLIN. 2019, 31, p. 364-371 31.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  7. Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia

    van Tilburg, C. M., Milde, T., Witt, R., Ecker, J., Hielscher, T., Seitz, A., Schenk, J-P., Buhl, J. L., Riehl, D., Frühwald, M. C., Pekrun, A., Rossig, C., Wieland, R., Flotho, C., Kordes, U., Gruhn, B., Simon, T., Linderkamp, C., Sahm, F., Taylor, L., Freitag, A., Burhenne, J., Foerster, K. I., Meid, A. D., Pfister, S. M., Karapanagiotou-Schenkel, I. & Witt, O., 10.12.2019, In: CLIN EPIGENETICS. 11, 1, p. 188

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  8. The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration

    Schoof, M., Launspach, M., Holdhof, D., Nguyen, L., Engel, V., Filser, S., Peters, F., Immenschuh, J., Hellwig, M., Niesen, J., Mall, V., Ertl-Wagner, B., Hagel, C., Spohn, M., Lutz, B., Sedlacik, J., Indenbirken, D., Merk, D. J. & Schüller, U., 05.12.2019, In: ACTA NEUROPATHOL COM. 7, 1, p. 199

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

    Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  10. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  11. Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy

    Prondzynski, M., Lemoine, M. D., Zech, A. T. L., Horvath, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F., Münch, J., Laufer, S., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 12.2019, In: EMBO MOL MED. 11, 12, e11115.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

    Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  13. Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

    Koehne, T., Müller-Stöver, S., Köhn, A., Stumpfe, K., Lezius, S., Schmid, C., Lukacs, Z., Kahl-Nieke, B. & Muschol, N., 12.2019, In: SLEEP BREATH. 23, 4, p. 1315-1321 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  14. Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1

    Atiskova, Y., Dulz, S., Schmäschke, K., Oh, J., Grabhorn, E., Kemper, M. J. & Brinkert, F., 12.2019, In: AM J TRANSPLANT. 19, 12, p. 3328-3334 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. Pain and Sedation Scales for Neonatal and Pediatric Patients in a Preverbal Stage of Development: A Systematic Review

    Giordano, V., Edobor, J., Deindl, P., Wildner, B., Goeral, K., Steinbauer, P., Werther, T., Berger, A. & Olischar, M., 12.2019, In: JAMA PEDIATR.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  16. PEDIA: prioritization of exome data by image analysis

    Hsieh, T-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S., Douzgou, S., Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C-E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E-K., Sznajer, Y., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., 12.2019, In: GENET MED. 21, 12, p. 2807-2814 8 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  17. The CLN3 gene and protein: What we know

    Mirza, M., Vainshtein, A., DiRonza, A., Chandrachud, U., Haslett, L. J., Palmieri, M., Storch, S., Groh, J., Dobzinski, N., Napolitano, G., Schmidtke, C. & Kerkovich, D. M., 12.2019, In: MOL GENET GENOM MED. 7, 12, p. e859

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  18. The molecular landscape of ETMR at diagnosis and relapse

    Lambo, S., Gröbner, S. N., Rausch, T., Waszak, S. M., Schmidt, C., Gorthi, A., Romero, J. C., Mauermann, M., Brabetz, S., Krausert, S., Buchhalter, I., Koster, J., Zwijnenburg, D. A., Sill, M., Hübner, J-M., Mack, N., Schwalm, B., Ryzhova, M., Hovestadt, V., Papillon-Cavanagh, S., Chan, J. A., Landgraf, P., Ho, B., Milde, T., Witt, O., Ecker, J., Sahm, F., Sumerauer, D., Ellison, D. W., Orr, B. A., Darabi, A., Haberler, C., Figarella-Branger, D., Wesseling, P., Schittenhelm, J., Remke, M., Taylor, M. D., Gil-da-Costa, M. J., Łastowska, M., Grajkowska, W., Hasselblatt, M., Hauser, P., Pietsch, T., Uro-Coste, E., Bourdeaut, F., Masliah-Planchon, J., Rigau, V., Alexandrescu, S., Wolf, S., Li, X-N., Schüller, U., Snuderl, M., Karajannis, M. A., Giangaspero, F., Jabado, N., von Deimling, A., Jones, D. T. W., Korbel, J. O., von Hoff, K., Lichter, P., Huang, A., Bishop, A. J. R., Pfister, S. M., Korshunov, A. & Kool, M., 12.2019, In: NATURE. 576, 7786, p. 274-280 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  19. Zinkmangel als Ursache eines „Dekubitus“ beim Frühgeborenen?

    Asselborn, J. R., Thayssen, M., Lehmberg, K., Apostolidou, S. & Singer, D., 12.2019, In: Z GEBURTSH NEONATOL. 223, 6, p. 369-372 4 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  20. Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome

    Mühlstädt, K., De Backer, J., von Kodolitsch, Y., Kutsche, K., Muiño Mosquera, L., Brickwedel, J., Girdauskas, E., Mir, T. S., Mahlmann, A., Tsilimparis, N., Staebler, A., Schoof, L., Seidel, H., Berger, J., Bernhardt, A. M., Blankenberg, S., Kölbel, T., Detter, C., Szöcs, K. & Kaemmerer, H., 29.11.2019, In: J CLIN MED. 8, 12

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  21. Characterization of novel, recurrent genomic rearrangements as sensitive MRD targets in childhood B-cell precursor ALL

    Zur Stadt, U., Alawi, M., Adao, M., Indenbirken, D., Escherich, G. & Horstmann, M. A., 29.11.2019, In: BLOOD CANCER J. 9, 12, p. 96

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  22. Results of CoALL 07-03 study childhood ALL based on combined risk assessment by in vivo and in vitro pharmacosensitivity

    Schramm, F., Zur Stadt, U., Zimmermann, M., Jorch, N., Pekrun, A., Borkhardt, A., Imschweiler, T., Christiansen, H., Faber, J., Schmid, I., Feuchtinger, T., Beron, G., den Boer, M. L., Pieters, R., Horstmann, M. A., Janka-Schaub, G. E. & Escherich, G., 26.11.2019, In: Blood Adv. 3, 22, p. 3688-3699 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  23. Improved risk-stratification for posterior fossa ependymoma of childhood considering clinical, histological and genetic features - a retrospective analysis of the HIT ependymoma trial cohort

    Jünger, S. T., Mynarek, M., Wohlers, I., Dörner, E., Mühlen, A. Z., Velez-Char, N., von Hoff, K., Rutkowski, S., Warmuth-Metz, M., Kortmann, R-D., Timmermann, B., Rahmann, S., Klein-Hitpass, L., von Bueren, A. O. & Pietsch, T., 14.11.2019, In: ACTA NEUROPATHOL COM. 7, 1, p. 181

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease

    Benkert, J., Hess, S., Roy, S., Beccano-Kelly, D., Wiederspohn, N., Duda, J., Simons, C., Patil, K., Gaifullina, A., Mannal, N., Dragicevic, E., Spaich, D., Müller, S., Nemeth, J., Hollmann, H., Deuter, N., Mousba, Y., Kubisch, C., Poetschke, C., Striessnig, J., Pongs, O., Schneider, T., Wade-Martins, R., Patel, S., Parlato, R., Frank, T., Kloppenburg, P. & Liss, B., 08.11.2019, In: NAT COMMUN. 10, 1, p. 5094

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. Monitoring intra-abdominal pressure after liver transplantation in children

    Deindl, P., Wagner, J., Herden, U., Schulz-Jürgensen, S., Schild, R., Vettorazzi, E., Bergers, M., Keck, M., Singer, D., Fischer, L. & Herrmann, J., 01.11.2019, In: PEDIATR TRANSPLANT. 23, 7, p. e13565

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  26. Comparison of procalcitonin and C-reactive protein as early diagnostic marker for the identification of transplant-related adverse events after allogeneic hematopoietic stem cell transplantation in pediatric patients

    Cabanillas Stanchi, K. M., Queudeville, M., Malaval, C., Feucht, J., Schlegel, P., Dobratz, M., Seitz, C., Müller, I., Lang, P., Handgretinger, R. & Döring, M., 11.2019, In: J CANCER RES CLIN. 145, 11, p. 2779-2791 13 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  27. Greater Susceptibility for Metabolic Syndrome in Pediatric Solid Organ and Stem Cell Transplant Recipients

    Blöte, R., Memaran, N., Borchert-Mörlins, B., Thurn-Valsassina, D., Goldschmidt, I., Beier, R., Sauer, M., Müller, C., Sarganas, G., Oh, J., Büscher, R., Kemper, M. J., Sugianto, R. I., Epping, J., Schmidt, B. M. W. & Melk, A., 11.2019, In: TRANSPLANTATION. 103, 11, p. 2423-2433 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  28. Identification of Distant Metastases From Recurrent Gliosarcoma Using Whole-Body 18F-FDG PET/CT

    Unterrainer, M., Ruf, V., Cyran, C. C., Brendel, M., Thon, N., Herms, J., Schüller, U., Tonn, J-C., Bartenstein, P. & Albert, N. L., 11.2019, In: CLIN NUCL MED. 44, 11, p. 923-924 2 p.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  29. Imaging Characteristics of Wingless Pathway Subgroup Medulloblastomas: Results from the German HIT/SIOP-Trial Cohort

    Stock, A., Mynarek, M., Pietsch, T., Pfister, S. M., Clifford, S. C., Goschzik, T., Sturm, D., Schwalbe, E. C., Hicks, D., Rutkowski, S., Bison, B., Pham, M. & Warmuth-Metz, M., 11.2019, In: AM J NEURORADIOL. 40, 11, p. 1811-1817 7 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  30. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people

    Gimpel, C., Bergmann, C., Bockenhauer, D., Breysem, L., Cadnapaphornchai, M. A., Cetiner, M., Dudley, J., Emma, F., Konrad, M., Harris, T., Harris, P. C., König, J., Liebau, M. C., Marlais, M., Mekahli, D., Metcalfe, A. M., Oh, J., Perrone, R. D., Sinha, M. D., Titieni, A., Torra, R., Weber, S., Winyard, P. J. D. & Schaefer, F., 11.2019, In: NAT REV NEPHROL. 15, 11, p. 713-726 14 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  31. Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study

    Bélard, S., Brand, J., Schulze-Sturm, U., Janda, A., von Both, U., Tacoli, C., Alberer, M., Kempf, C., Stegemann, M. S., Krüger, R., Varnholt, V., Blohm, M., Reiter, K., Zoller, T., Suttorp, N., Mall, M., von Bernuth, H., Gratopp, A., Hübner, J., Hufnagel, M., Kobbe, R. & Kurth, F., 11.2019, In: PEDIATR INFECT DIS J. 38, 11, p. e295-e300

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  32. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

    Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N. & Mole, S. E., 11.2019, In: HUM MUTAT. 40, 11, p. 1924-1938 15 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  33. Presence of centromeric but absence of telomeric group B KIR haplotypes in stem cell donors improve leukaemia control after HSCT for childhood ALL

    Babor, F., Peters, C., Manser, A. R., Glogova, E., Sauer, M., Pötschger, U., Ahlmann, M., Cario, G., Feuchtinger, T., Gruhn, B., Güngör, T., Kremens, B., Lang, P., Mezger, M., Müller, I., Mytilineos, J., Oevermann, L., Pichler, H., Scherenschlich, N., Schuster, F. R., Siepermann, M., Stachel, D., Strahm, B., Wössmann, W., Escherich, G., Zimmermann, M., Schrappe, M., Borkhardt, A., Eckert, C., Bader, P., Uhrberg, M. & Meisel, R., 11.2019, In: BONE MARROW TRANSPL. 54, 11, p. 1847-1858 12 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  34. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

    Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  35. Erratum: 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., 31.10.2019, In: ULTRASCHALL MED. 42, 3, e55.

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  36. Interaction of Pregnancy-Specific Glycoprotein 1 With Integrin Α5β1 Is a Modulator of Extravillous Trophoblast Functions

    Rattila, S., Dunk, C. E. E., Im, M., Grichenko, O., Zhou, Y., Yanez-Mo, M., Blois, S. M., Yamada, K. M., Erez, O., Gomez-Lopez, N., Lye, S. J., Hinz, B., Romero, R., Cohen, M. & Dveksler, G., 31.10.2019, In: CELLS-BASEL. 8, 11

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  37. The Actin Binding Protein Plastin-3 Is Involved in the Pathogenesis of Acute Myeloid Leukemia

    Velthaus, A., Cornils, K., Hennigs, J. K., Grüb, S., Stamm, H., Wicklein, D., Bokemeyer, C., Heuser, M., Windhorst, S., Fiedler, W. & Wellbrock, J., 26.10.2019, In: CANCERS. 11, 11

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  38. An in-depth multi-omics analysis in RLE-6TN rat alveolar epithelial cells allows for nanomaterial categorization

    Karkossa, I., Bannuscher, A., Hellack, B., Bahl, A., Buhs, S., Nollau, P., Luch, A., Schubert, K., von Bergen, M. & Haase, A., 25.10.2019, In: PART FIBRE TOXICOL. 16, 1, p. 38

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  39. Pediatric ALL relapses after allo-SCT show high individuality, clonal dynamics, selective pressure, and druggable targets

    Hoell, J. I., Ginzel, S., Kuhlen, M., Kloetgen, A., Gombert, M., Fischer, U., Hein, D., Demir, S., Stanulla, M., Schrappe, M., Zur Stadt, U., Bader, P., Babor, F., Schuster, F., Strahm, B., Alten, J., Moericke, A., Escherich, G., von Stackelberg, A., Thiele, R., McHardy, A. C., Peters, C., Bornhauser, B., Bourquin, J-P., Krause, S., Enczmann, J., Meyer, L. H., Eckert, C., Borkhardt, A. & Meisel, R., 22.10.2019, In: Blood Adv. 3, 20, p. 3143-3156 14 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  40. T Cell Repertoire Dynamics during Pregnancy in Multiple Sclerosis

    Ramien, C., Yusko, E. C., Engler, J. B., Gamradt, S., Patas, K., Schweingruber, N., Willing, A., Rosenkranz, S. C., Diemert, A., Harrison, A., Vignali, M., Sanders, C., Robins, H. S., Tolosa, E., Heesen, C., Arck, P. C., Scheffold, A., Chan, K., Emerson, R. O., Friese, M. A. & Gold, S. M., 22.10.2019, In: CELL REP. 29, 4, p. 810-815.e4

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency -a case report and review of the literature

    Schober, S., Schilbach, K., Doering, M., Cabanillas Stanchi, K. M., Holzer, U., Kasteleiner, P., Schittenhelm, J., Schaefer, J. F., Müller, I., Lang, P. & Handgretinger, R., 11.10.2019, In: BMC PEDIATR. 19, 1, p. 346

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  42. Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism

    Johansson, K. E., Ståhl, A-L., Arvidsson, I., Loos, S., Tontanahal, A., Rebetz, J., Chromek, M., Kristoffersson, A-C., Johannes, L. & Karpman, D., 07.10.2019, In: SCI REP-UK. 9, 1, p. 14362

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  43. Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

    Atiskova, Y., Bartsch, S., Danyukova, T., Becker, E., Hagel, C., Storch, S. & Bartsch, U., 02.10.2019, In: SCI REP-UK. 9, 1, p. 14185

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

    Karaca, E., Posey, J. E., Bostwick, B., Liu, P., Gezdirici, A., Yesil, G., Coban Akdemir, Z., Bayram, Y., Harms, F. L., Meinecke, P., Alawi, M., Bacino, C. A., Sutton, V. R., Kortüm, F. & Lupski, J. R., 10.2019, In: AM J MED GENET A. 179, 10, p. 2056-2066 11 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  45. Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease

    Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearch

  46. Decidual immune cells: Guardians of human pregnancies

    Solano, M. E., 10.2019, In: BEST PRACT RES CL OB. 60, p. 3-16 14 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  47. Diagnosis, Therapy and Follow-up of Vaginal Cancer and Its Precursors. Guideline of the DGGG and the DKG (S2k-Level, AWMF Registry No. 032/042, October 2018)

    Schnürch, H-G., Ackermann, S., Alt-Radtke, C. D., Angleitner, L., Barinoff, J., Beckmann, M. W., Böing, C., Dannecker, C., Fehm, T., Gaase, R., Gass, P., Gebhardt, M., Gieseking, F., Günthert, A., Hack, C. C., Hantschmann, P., Horn, L. C., Koch, M. C., Letsch, A., Mallmann, P., Mangold, B., Marnitz, S., Mehlhorn, G., Paradies, K., Reinhardt, M. J., Tholen, R., Torsten, U., Weikel, W., Wölber, L. & Hampl, M., 10.2019, In: GEBURTSH FRAUENHEILK. 79, 10, p. 1060-1078 19 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  48. Impact of refugee influx on the epidemiology of late-presenting HIV-infected pregnant women and mother-to-child transmission: comparing a southern and northern medical centre in Germany

    Singer, K., Schulze-Sturm, U., Alba-Alejandre, I., Hollwitz, B., Nguyen, T. T. T., Sollinger, F., Eberle, J., Hübner, J., Kobbe, R., Genzel-Boroviczény, O. & von Both, U., 10.2019, In: INFECTION. 47, 5, p. 847-852 6 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  49. Impact on the hepatic flow velocity after pediatric combined liver-kidney transplantation compared to isolated pediatric liver transplantation-A matched-pair analysis

    Hellenkemper, J. V., Grabhorn, E., Brinkert, F., Lenhartz, H., Herrmann, J., Fischer, L., Helmke, K. & Herden, U., 10.2019, In: CLIN TRANSPLANT. 33, 10, p. e13687

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. NUTM1 is a recurrent fusion gene partner in B cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2

    Hormann, F. M., Hoogkamer, A. Q., Beverloo, H. B., Boeree, A., Dingjan, I., Wattel, M. M., Stam, R. W., Escherich, G., Pieters, R., den Boer, M. L. & Boer, J. M., 10.2019, In: HAEMATOLOGICA. 104, 10, p. e455-e459

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  51. The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017

    van Dorland, H. A., Taleghani, M. M., Sakai, K., Friedman, K. D., George, J. N., Hrachovinova, I., Knöbl, P. N., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Bütikofer, L., Largiadèr, C. R., Cermakova, Z., Kokame, K., Miyata, T., Yagi, H., Terrell, D. R., Vesely, S. K., Matsumoto, M., Lämmle, B., Fujimura, Y., Kremer Hovinga, J. A. & Hereditary TTP Registry, 10.2019, In: HAEMATOLOGICA. 104, 10, p. 2107-2115 9 p.

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review