Center for Obstetrics and Pediatrics

Publications

  1. 2022
  2. Influence of Fetomaternal Microchimerism on Maternal NK Cell Reactivity against the Child's Leukemic Blasts

    Martin, L-M., Kruchen, A., Fehse, B. & Müller, I., 04.03.2022, In: BIOMEDICINES. 10, 3, 603.

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

  3. Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

    Breast Cancer Association Consortium (BCAC), Mavaddat, N., Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Keeman, R., Bolla, M. K., Dennis, J., Wang, Q., Ahearn, T. U., Andrulis, I. L., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Briceno, I., Brüning, T., Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Christiansen, H., Czene, K., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Geisler, J., Giles, G. G., Guénel, P., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Hartikainen, J. M., Hartman, M., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E. K., Kristensen, V. N., Li, J., Lim, S. H., Lindblom, A., Loizidou, M. A., Lophatananon, A., Lubinski, J., Madsen, M. J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R. L., Mohd Taib, N. A., Morra, A., Muir, K., Obi, N., Osorio, A., Park-Simon, T-W., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sim, X., Southey, M. C., Thorne, H., Tomlinson, I., Torres, D., Truong, T., Yip, C. H., Spurdle, A. B., Vreeswijk, M. P. G., Dunning, A. M., García-Closas, M., Pharoah, P. D. P., Kvist, A., Muranen, T. A., Nevanlinna, H., Teo, S. H., Devilee, P., Schmidt, M. K. & Easton, D. F., 01.03.2022, In: JAMA ONCOL. 8, 3, p. e216744 e216744.

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

  4. A new amplicon-based gene panel for next generation sequencing characterization of meningiomas

    Mawrin, C., Koch, R., Waldt, N., Sandalcioglu, I. E., Braunsdorf, W. K., Warnke, J-P., Goehre, F., Meisel, H-J., Ewald, C., Neyazi, S., Schüller, U. & Kirches, E., 03.2022, In: BRAIN PATHOL. 32, 2, e13046.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  5. Author Correction: Platelet GPIbα is a mediator and potential interventional target for NASH and subsequent liver cancer

    Malehmir, M., Pfister, D., Gallage, S., Szydlowska, M., Inverso, D., Kotsiliti, E., Leone, V., Peiseler, M., Surewaard, B. G. J., Rath, D., Ali, A., Wolf, M. J., Drescher, H., Healy, M. E., Dauch, D., Kroy, D., Krenkel, O., Kohlhepp, M., Engleitner, T., Olkus, A., Sijmonsma, T., Volz, J., Deppermann, C., Stegner, D., Helbling, P., Nombela-Arrieta, C., Rafiei, A., Hinterleitner, M., Rall, M., Baku, F., Borst, O., Wilson, C. L., Leslie, J., O'Connor, T., Weston, C. J., Chauhan, A., Adams, D. H., Sheriff, L., Teijeiro, A., Prinz, M., Bogeska, R., Anstee, N., Bongers, M. N., Notohamiprodjo, M., Geisler, T., Withers, D. J., Ware, J., Mann, D. A., Augustin, H. G., Vegiopoulos, A., Milsom, M. D., Rose, A. J., Lalor, P. F., Llovet, J. M., Pinyol, R., Tacke, F., Rad, R., Matter, M., Djouder, N., Kubes, P., Knolle, P. A., Unger, K., Zender, L., Nieswandt, B., Gawaz, M., Weber, A. & Heikenwalder, M., 03.2022, In: NAT MED. 28, 3, p. 600

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

  6. Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

    Kluck, R., Müller, S., Jagodzinski, C., Hohenfellner, K., Büscher, A., Kemper, M. J., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Kanzelmeyer, N., Pavičić, L., Haffner, D. & Zivicnjak, M., 03.2022, In: J INHERIT METAB DIS. 45, 2, p. 192-202 11 p.

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

  7. Clinical and molecular characterization of isolated M1 disease in pediatric medulloblastoma: experience from the German HIT-MED studies

    Obrecht, D., Mynarek, M., Hagel, C., Kwiecien, R., Spohn, M., Bockmayr, M., Bison, B., Pfister, S. M., Jones, D. T. W., Sturm, D., von Deimling, A., Sahm, F., von Hoff, K., Juhnke, B-O., Benesch, M., Gerber, N. U., Friedrich, C., von Bueren, A. O., Kortmann, R-D., Schwarz, R., Pietsch, T., Fleischhack, G., Schüller, U. & Rutkowski, S., 03.2022, In: J NEURO-ONCOL. 157, 1, p. 37-48 12 p.

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

  8. Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach

    Lees, C. C., Romero, R., Stampalija, T., Dall'Asta, A., DeVore, G. A., Prefumo, F., Frusca, T., Visser, G. H. A., Hobbins, J. C., Baschat, A. A., Bilardo, C. M., Galan, H. L., Campbell, S., Maulik, D., Figueras, F., Lee, W., Unterscheider, J., Valensise, H., Da Silva Costa, F., Salomon, L. J., Poon, L. C., Ferrazzi, E., Mari, G., Rizzo, G., Kingdom, J. C., Kiserud, T. & Hecher, K., 03.2022, In: AM J OBSTET GYNECOL. 226, 3, p. 366-378 13 p.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  9. Engpass im Kreißsaal?

    Agricola, C. J. & Voß, M., 03.2022, In: Deutsche Hebammen Zeitschrift. 3

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

  10. Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma

    Hohm, A., Karremann, M., Gielen, G. H., Pietsch, T., Warmuth-Metz, M., Vandergrift, L. A., Bison, B., Stock, A., Hoffmann, M., Pham, M., Kramm, C. M. & Nowak, J., 03.2022, In: CLIN NEURORADIOL. 32, 1, p. 249-258 10 p.

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

  11. Phenotypic analysis of the pediatric immune response to SARS-CoV-2 by flow cytometry

    Sibbertsen, F., Glau, L., Paul, K., Mir, T. S., Gersting, S. W., Tolosa, E. & Dunay, G. A., 03.2022, In: CYTOM PART A. 101, 3, p. 220-227 8 p.

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

  12. Refining M1 stage in medulloblastoma: criteria for cerebrospinal fluid cytology and implications for improved risk stratification from the HIT-2000 trial

    Hagel, C., Sloman, V., Mynarek, M., Petrasch, K., Obrecht, D., Kühl, J., Deinlein, F., Schmid, R., von Bueren, A. O., Friedrich, C., Juhnke, B. O., Gerber, N. U., Kwiecien, R., Girschick, H., Höller, A., Zapf, A., von Hoff, K. & Rutkowski, S., 03.2022, In: EUR J CANCER. 164, p. 30-38

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

  13. Types of deviation and review criteria in pretreatment central quality control of tumor bed boost in medulloblastoma-an analysis of the German Radiotherapy Quality Control Panel in the SIOP PNET5 MB trial

    Dietzsch, S., Braesigk, A., Seidel, C., Remmele, J., Kitzing, R., Schlender, T., Mynarek, M., Geismar, D., Jablonska, K., Schwarz, R., Pazos, M., Weber, D. C., Frick, S., Gurtner, K., Matuschek, C., Harrabi, S. B., Glück, A., Lewitzki, V., Dieckmann, K., Benesch, M., Gerber, N. U., Obrecht, D., Rutkowski, S., Timmermann, B. & Kortmann, R-D., 03.2022, In: STRAHLENTHER ONKOL. 198, 3, p. 282-290 9 p.

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

  14. Multimodal Treatment of Nasopharyngeal Carcinoma in Children, Adolescents and Young Adults-Extended Follow-Up of the NPC-2003-GPOH Study Cohort and Patients of the Interim Cohort

    Römer, T., Franzen, S., Kravets, H., Farrag, A., Makowska, A., Christiansen, H., Eble, M. J., Timmermann, B., Staatz, G., Mottaghy, F. M., Bührlen, M., Hagenah, U., Puzik, A., Driever, P. H., Greiner, J., Jorch, N., Tippelt, S., Schneider, D. T., Kropshofer, G., Overbeck, T. R., Christiansen, H., Brozou, T., Escherich, G., Becker, M., Friesenbichler, W., Feuchtinger, T., Puppe, W., Heussen, N., Hilgers, R. D. & Kontny, U., 28.02.2022, In: CANCERS. 14, 5, 1261.

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

  15. Temporally extended and reversible neuronal silencing with Aion

    Rodriguez-Rozada, S., Wietek, J., Tenedini, F. M., Sauter, K., Hegemann, P., Soba, P. & Wiegert, J. S., 28.02.2022, bioRxiv

    Research output: Other contributionOtherResearch

  16. Soluble CD146 is increased in preeclampsia and interacts with galectin-1 to regulate trophoblast migration through VEGFR2 receptor

    Bouvier, S., Traboulsi, W., Blois, S. M., Demattei, C., Joshkon, A., Mousty, E., Nollet, M., Paulmyer-Lacroix, O., Foucault-Bertaud, A., Fortier, M., Leroyer, A. S., Bachelier, R., Letouzey, V., Alfaidy, N., Dignat-George, F., Blot-Chabaud, M., Gris, J-C. & Bardin, N., 22.02.2022, In: F&S science. 3, 1, p. 84-94 11 p.

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

  17. Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

    Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75

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

  18. Akute lymphoblastische Leukämie

    Escherich, G., Möricke, A., Horstmann, M. & Schrappe, M., 15.02.2022, Kompendium Internistische Onkologie: Standards in Diagnostik und Therapie. Schmoll, H-J. (ed.). 5 ed. Berlin, Heidelberg: Springer, 11 p.

    Research output: SCORING: Contribution to book/anthologyChapterResearchpeer-review

  19. NET Release of Long-Term Surviving Neutrophils

    Kolman, J. P., Pagerols Raluy, L., Müller, I., Nikolaev, V., Trochimiuk, M., Appl, B., Wadehn, H., Dücker, C., Stoll, F., Boettcher, M., Reinshagen, K. & Trah, J., 15.02.2022, In: FRONT IMMUNOL. 13, p. 815412 815412.

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

  20. Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients

    Diaz Coronado, R. Y., Mynarek, M., Koelsche, C., Mora Alferez, P., Casavilca Zambrano, S., Wachtel Aptowitzer, A., Sahm, F., von Deimling, A., Schüller, U., Spohn, M., Sturm, D., Pfister, S. M., Morales La Madrid, A., Sernaque Quintana, R., Sarria Bardales, G., Negreiros Chinchihuara, T., Ojeda Medina, L., Garcia-Corrochano Medina, P., Campos Sanchez, D. A., Ponce Farfan, J., Rutkowski, S. & Garcia Leon, J. L., 15.02.2022, In: CANCER-AM CANCER SOC. 128, 4, p. 697-707 11 p.

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

  21. Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation

    Merkens, L., Sailer, V., Lessel, D., Janzen, E., Greimeier, S., Kirfel, J., Perner, S., Pantel, K., Werner, S. & von Amsberg, G., 02.02.2022, In: J EXP CLIN CANC RES. 41, 1, 46.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  22. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA

    Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.

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

  23. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

    Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R. & Hahn, A., 02.2022, In: NEUROPEDIATRICS. 53, 1, p. 39-45 7 p.

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

  24. Clinical outcomes, Kadish-INSICA staging and therapeutic targeting of somatostatin receptor 2 in olfactory neuroblastoma

    Lechner, M., Takahashi, Y., Turri-Zanoni, M., Liu, J., Counsell, N., Hermsen, M., Kaur, R. P., Zhao, T., Ramanathan, M., Schartinger, V. H., Emanuel, O., Helman, S., Varghese, J., Dudas, J., Riechelmann, H., Sprung, S., Haybaeck, J., Howard, D., Engel, N. W., Stewart, S., Brooks, L., Pickles, J. C., Jacques, T. S., Fenton, T. R., Williams, L., Vaz, F. M., O'Flynn, P., Stimpson, P., Wang, S., Hannan, S. A., Unadkat, S., Hughes, J., Dwivedi, R., Forde, C. T., Randhawa, P., Gane, S., Joseph, J., Andrews, P. J., Royle, G., Franchi, A., Maragliano, R., Battocchio, S., Bewicke-Copley, H., Pipinikas, C., Webster, A., Thirlwell, C., Ho, D., Teschendorff, A., Zhu, T., Steele, C. D., Pillay, N., Vanhaesebroeck, B., Mohyeldin, A., Fernandez-Miranda, J., Park, K. W., Le, Q-T., West, R. B., Saade, R., Manes, R. P., Omay, S. B., Vining, E. M., Judson, B. L., Yarbrough, W. G., Sansovini, M., Silvia, N., Grassi, I., Bongiovanni, A., Capper, D., Schüller, U., Thavaraj, S., Sandison, A., Surda, P., Hopkins, C., Ferrari, M., Mattavelli, D., Rampinelli, V., Facchetti, F., Nicolai, P., Bossi, P., Henriquez, O. A., Magliocca, K., Solares, C. A., Wise, S. K., Llorente, J. L., Patel, Z. M., Nayak, J. V., Hwang, P. H., Lacy, P. D., Woods, R., O'Neill, J. P., Jay, A., Carnell, D., Forster, M. D., Ishii, M., London, N. R., Bell, D. M., Gallia, G. L., Castelnuovo, P., Severi, S., Lund, V. J. & Hanna, E. Y., 02.2022, In: EUR J CANCER. 162, p. 221-236 16 p.

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

  25. Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment

    Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.

    Research output: SCORING: Contribution to journalConference abstract in journalResearchpeer-review

  26. Empfehlungen zu SARS-CoV-2/COVID-19 in Schwangerschaft, Geburt und Wochenbett – Update November 2021 (Kurzfassung)

    Zöllkau, J., Hagenbeck, C., Hecher, K., Pecks, U., Schlembach, D., Simon, A., Schlösser, R. & Schleußner, E., 02.2022, In: Z GEBURTSH NEONATOL. 226, 1, p. 16-24 9 p.

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

  27. Empfehlungen zu SARS-CoV-2/COVID-19 in Schwangerschaft, Geburt und Wochenbett – Update November 2021 (Langfassung)

    Zöllkau, J., Hagenbeck, C., Hecher, K., Pecks, U., Schlembach, D., Simon, A., Schlösser, R. & Schleußner, E., 02.2022, In: Z GEBURTSH NEONATOL. 226, 1, p. e1-e35

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

  28. Final results of the Choroid Plexus Tumor study CPT-SIOP-2000

    Wolff, J. E., Van Gool, S. W., Kutluk, T., Diez, B., Kebudi, R., Timmermann, B., Garami, M., Sterba, J., Fuller, G. N., Bison, B. & Kordes, U. R., 02.2022, In: J NEURO-ONCOL. 156, 3, p. 599-613 15 p.

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

  29. Gain-of-function variant p.Pro2555Arg of von Willebrand factor increases aggregate size through altering stem dynamics

    Huck, V., Chen, P-C., Xu, E-R., Tischer, A., Klemm, U., Aponte-Santamaría, C., Mess, C., Obser, T., Kutzki, F., König, G., Denis, C., Gräter, F., Wilmanns, M., Auton, M., Schneider, S. W., Schneppenheim, R., Hennig, J. & Brehm, M. A., 02.2022, In: THROMB HAEMOSTASIS. 122, 2, p. 226-239 14 p.

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

  30. Hypersensitivity to Pegylated E.colia sparaginase as first-line treatment in contemporary paediatric acute lymphoblastic leukaemia protocols: a meta-analysis of the Ponte di Legno Toxicity working group

    Brigitha, L. J., Fiocco, M., Pieters, R., Albertsen, B. K., Escherich, G., Lopez-Lopez, E., Mondelaers, V., Vora, A., Vrooman, L., Schmiegelow, K., van der Sluis, I. M. & Ponte di Legno toxicity working group, 02.2022, In: EUR J CANCER. 162, p. 65-75 11 p.

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

  31. Markers of neutrophil activation and extracellular trap formation predict appendicitis

    Boettcher, M., Schacker, A-L., Esser, M., Schönfeld, L., Ebenebe, C. U., Rohde, H., Mokhaberi, N., Trochimiuk, M., Appl, B., Raluy, L. P., Reinshagen, K., Klohs, S. & Königs, I., 02.2022, In: SURGERY. 171, 2, p. 312-319 8 p.

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

  32. Maternal versus paternal living kidney transplant donation is associated with lower rejection in young pediatric recipients: A Collaborative Transplant Study report

    Engels, G., Döhler, B., Tönshoff, B., Oh, J., Kruchen, A., Müller, I. & Süsal, C., 02.2022, In: PEDIATR TRANSPLANT. 26, 1, e14154.

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

  33. Response to Battaglia and Balestracci

    Loos, S., 02.2022, In: PEDIATR NEPHROL. 37, 2, p. 465

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

  34. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

    Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.

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

  35. Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis

    Lopez-Fabuel, I., Garcia-Macia, M., Buondelmonte, C., Burmistrova, O., Bonora, N., Alonso-Batan, P., Morant-Ferrando, B., Vicente-Gutierrez, C., Jimenez-Blasco, D., Quintana-Cabrera, R., Fernandez, E., Llop, J., Ramos-Cabrer, P., Sharaireh, A., Guevara-Ferrer, M., Fitzpatrick, L., Thompton, C. D., McKay, T. R., Storch, S., Medina, D. L., Mole, S. E., Fedichev, P. O., Almeida, A. & Bolaños, J. P., 27.01.2022, In: NAT COMMUN. 13, 1, p. 536

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

  36. The Length of the Transition Zone in Patients with Rectosigmoid Hirschsprung Disease

    Tomuschat, C., Mietzsch, S., Dwertmann-Rico, S., Clauditz, T., Schaefer, H. & Reinshagen, K., 25.01.2022, In: CHILDREN-BASEL. 9, 2, 152.

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

  37. LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

    Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R. & Magnussen, C., 19.01.2022, In: GENES-BASEL. 13, 2, 169.

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

  38. Local and Systemic Therapy of Recurrent Medulloblastomas in Children and Adolescents: Results of the P-HIT-REZ 2005 Study

    Gaab, C., Adolph, J. E., Tippelt, S., Mikasch, R., Obrecht, D., Mynarek, M., Rutkowski, S., Pfister, S. M., Milde, T., Witt, O., Bison, B., Warmuth-Metz, M., Kortmann, R-D., Dietzsch, S., Pietsch, T., Timmermann, B., Sträter, R., Bode, U., Faldum, A., Kwiecien, R. & Fleischhack, G., 18.01.2022, In: CANCERS. 14, 3, 471.

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

  39. Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders

    Woike, D., Wang, E., Tibbe, D., Hassani Nia, F., Failla, A. V., Kibæk, M., Overgård, T. M., Larsen, M. J., Fagerberg, C. R., Barsukov, I. & Kreienkamp, H-J., 18.01.2022, In: SCI REP-UK. 12, 1, 902.

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

  40. Clinical Trials in High-Risk Medulloblastoma: Evolution of the SIOP-Europe HR-MB Trial

    Bailey, S., André, N., Gandola, L., Massimino, M., Rutkowski, S. & Clifford, S. C., 13.01.2022, In: CANCERS. 14, 2, 374.

    Research output: SCORING: Contribution to journalSCORING: Review articleResearch

  41. Colectomy Followed by J-Pouch Reconstruction to Correct Total Colonic Aganglionosis

    Reinshagen, K., Burmester, G., Hagens, J., Krebs, T. F. & Tomuschat, C., 12.01.2022, In: CHILDREN-BASEL. 9, 1, 101.

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

  42. CfDNA and DNases: New Biomarkers of Sepsis in Preterm Neonates—A Pilot Study

    Lenz, M., Maiberger, T., Armbrust, L., Kiwit, A., Von der Wense, A., Reinshagen, K., Elrod, J. & Boettcher, M., 06.01.2022, In: CELLS-BASEL. 11, 2, 192.

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

  43. Treatment of embryonal tumors with multilayered rosettes with carboplatin/etoposide induction and high-dose chemotherapy within the prospective P-HIT trial

    Juhnke, B-O., Gessi, M., Gerber, N. U., Friedrich, C., Mynarek, M., von Bueren, A. O., Haberler, C., Schüller, U., Kortmann, R-D., Timmermann, B., Bison, B., Warmuth-Metz, M., Kwiecien, R., Pfister, S. M., Spix, C., Pietsch, T., Kool, M., Rutkowski, S. & von Hoff, K., 05.01.2022, In: NEURO-ONCOLOGY. 24, 1, p. 127-137 11 p.

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

  44. Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET

    Wiegand-Grefe, S., Denecke, J. & CARE-FAM-NET Studiengruppe, 04.01.2022, In: MONATSSCHR KINDERH. 170, p. 44 - 51 8 p.

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

  45. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

    Lessel, D., Rading, K., Campbell, S. E., Thiele, H., Altmüller, J., Gordon, L. B. & Kubisch, C., 01.2022, In: AM J MED GENET A. 188, 1, p. 216-223 8 p.

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

  46. Auswirkungen der Corona Pandemie auf die Notfallversorgung im Kindesalter und die zeitliche Entwicklung im Verlauf der Pandemie

    Elrod, J., Mahaleh, S., Mohr, C., Boettcher, M., Dietze, N., Hübner, U., Koch, B., Steinbrink, A., Harandipour, N., Gräfin von Waldersee, E., Shahsavari, S., Reinshagen, K. & Königs, I., 01.2022, In: KLIN PADIATR. 234, 1, p. 33-41 9 p.

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

  47. Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology

    Spencer, R. N., Hecher, K., Norman, G., Marsal, K., Deprest, J., Flake, A., Figueras, F., Lees, C., Thornton, S., Beach, K., Powell, M., Crispi, F., Diemert, A., Marlow, N., Peebles, D. M., Westgren, M., Gardiner, H., Gratacos, E., Brodszki, J., Batista, A., Turier, H., Patel, M., Power, B., Power, J., Yaz, G. & David, A. L., 01.2022, In: PRENATAL DIAG. 42, 1, p. 15-26 12 p.

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

  48. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism

    Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.

    Research output: SCORING: Contribution to book/anthologyChapterResearchpeer-review

  49. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium

    Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P. & European Pompe Consortium project group on classic infantile Pompe disease, 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 28-37 10 p.

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

  50. Fatal outcome of SARS-CoV-2 infection (B1.1.7) in a 4-year-old child

    Menger, J., Apostolidou, S., Edler, C., Kniep, I., Kobbe, R., Singer, D. & Sperhake, J-P., 01.2022, In: INT J LEGAL MED. 136, 1, p. 189-192 4 p.

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

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