Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2020

  2. Classical but Not Rap Music Significantly Improves Transferability and Long-Term Acquisition of Laparoscopic Suturing Skills: A Randomized Controlled Trial

    Mietzsch, S., Bergholz, R., Boettcher, J., Klippgen, L., Wenskus, J., Reinshagen, K. & Boettcher, M., 12.2020, In: EUR J PEDIATR SURG. 30, 6, p. 541-547 7 p.

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

  3. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

    Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A., Geneviève, D., Guillen Sacoto, M. J., Guimier, A., Harris, D. J., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Koshimizu, E., Lichtenbelt, K., Loik Ramey, V., Maik, M., Miyakate, S., Murakami, Y., Pasquier, L., Pedro, H., Simone, L., Sondergaard-Schatz, K., St-Onge, J., Thevenon, J., Valenzuela, I., Abou Jamra, R., van Gassen, K., van Haelst, M. M., van Koningsbruggen, S., Verdura, E., Whelan Habela, C., Zacher, P., Rivière, J-B., Thauvin-Robinet, C., Betschinger, J. & Faivre, L., 12.2020, In: J MED GENET. 57, 12, p. 808-819 12 p.

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

  4. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

    Bryant, L., Cox, S. G., Marchione, D., Joiner, E. F., Wilson, K., Janssen, K., Lee, P., March, M. E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K. J., Wadley, A., Mancini, G. M. S., Powell-Hamilton, N., van de Kamp, J., Grebe, T., Dean, J., Ross, A., Crawford, H. P., Powis, Z., Cho, M. T., Willing, M. C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C. B., Retterer, K., Schuette, J. L., Innis, J. W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T. M., Monaghan, K. G., Yuan, Z-F., Dubbs, H., Bend, R., Lee, J. A., Lyons, M. J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K. L., Odent, S., Cogne, B., Mercier, S., Bezieau, S., Besnard, T., Kury, S., Redon, R., Reinson, K., Wojcik, M. H., Õunap, K., Ilves, P., Innes, A. M., Kernohan, K. D., Costain, G., Meyn, M. S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M. G., Martinez-Agosto, J. A., Nelson, S. F., Palmer, C. G. S., Papp, J. C., Parker, N. H., Sinsheimer, J. S., Vilain, E., Wan, J., Yoon, A. J., Zheng, A., Brimble, E., Ferrero, G. B., Radio, F. C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J. M., Umana, L., Weiss, M. M., Gotway, G., Stuurman, K. E., Thompson, M. L., McWalter, K., Stumpel, C. T. R. M., Stevens, S. J. C., Stegmann, A. P. A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L. W., Larsen, M. J., Byler, M., Lebel, R. R., Hurst, A. C., Dean, J., Schrier Vergano, S. A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M. I., Longo, N., Sellars, E., Louie, R. J., Cathey, S. S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J. G., Chung, W., Garcia, B., Hakonarson, H. H., Bhoj, E. J. & DDD Study, 12.2020, In: SCI ADV. 6, 49

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

  5. Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

    Schweizer, L., Thierfelder, F., Thomas, C., Soschinski, P., Suwala, A., Stichel, D., Wefers, A. K., Wessels, L., Misch, M., Kim, H-Y., Jödicke, R., Teichmann, D., Kaul, D., Kahn, J., Bockmayr, M., Hasselblatt, M., Younsi, A., Unterberg, A., Knie, B., Walter, J., Al Safatli, D., May, S-A., Jödicke, A., Ntoulias, G., Moskopp, D., Vajkoczy, P., Heppner, F. L., Capper, D., Hartmann, W., Hartmann, C., von Deimling, A., Reuss, D. E., Schöler, A. & Koch, A., 12.2020, In: ACTA NEUROPATHOL. 140, 6, p. 893-906 14 p.

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

  6. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

    Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.

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

  7. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681

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

  8. The chimera-type galectin-3 is a positive modulator of trophoblast functions with dysregulated expression in gestational diabetes mellitus

    Freitag, N., Tirado-González, I., Barrientos, G., Cohen, M., Daher, S., Goldman-Wohl, D., Mincheva-Nilsson, L., John, C. M., Jeschke, U. & Blois, S. M., 12.2020, In: AM J REPROD IMMUNOL. 84, 6, p. e13311

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

  9. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

    Hecher, L., Johannsen, J., Bierhals, T., Buhk, J-H., Hempel, M. & Denecke, J., 12.2020, In: NEUROPEDIATRICS. 51, 6, p. 435-439 5 p.

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

  10. Treatment response of CNS high-grade neuroepithelial tumors with MN1 alteration

    Baroni, L. V., Rugilo, C., Lubieniecki, F., Sampor, C., Freytes, C., Nobre, L., Hansford, J. R., Malalasekera, V. S., Zapotocky, M., Dodgshun, A., Martinez, O. C., La Madrid, A. M., Lavarino, C., Suñol, M., Rutkowski, S., Schuller, U., Bouffet, E., Ramaswamy, V. & Alderete, D., 12.2020, In: PEDIATR BLOOD CANCER. 67, 12, p. e28627

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

  11. Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T

    Godel, T., V Cossel, K., Friedrich, R. E., Glatzel, M., Canaan-Kühl, S., Duning, T., Kronlage, M., Heiland, S., Bendszus, M., Muschol, N. & Mautner, V-F., 30.11.2020, In: DIAGNOSTICS. 10, 12

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

  12. Lithocholic bile acid induces apoptosis in human nephroblastoma cells: a non-selective treatment option

    Trah, J., Arand, J., Oh, J., Pagerols-Raluy, L., Trochimiuk, M., Appl, B., Heidelbach, H., Vincent, D., Saleem, M. A., Reinshagen, K., Mühlig, A. K. & Boettcher, M., 23.11.2020, In: SCI REP-UK. 10, 1, p. 20349

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

  13. Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

    Boettcher, J., Filter, B., Denecke, J., Hot, A., Daubmann, A., Zapf, A., Wegscheider, K., Zeidler, J., von der Schulenburg, J-M. G., Bullinger, M., Rassenhofer, M., Schulte-Markwort, M. & Wiegand-Grefe, S., 20.11.2020, In: BMC FAM PRACT. 21, 1, 239.

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

  14. Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16.11.2020, In: NAT COMMUN. 11, 1, p. 5797

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

  15. Heregulin (HRG) assessment for clinical trial eligibility testing in a molecular registry (PRAEGNANT) in Germany

    Huebner, H., Kurbacher, C. M., Kuesters, G., Hartkopf, A. D., Lux, M. P., Huober, J., Volz, B., Taran, F-A., Overkamp, F., Tesch, H., Häberle, L., Lüftner, D., Wallwiener, M., Müller, V., Beckmann, M. W., Belleville, E., Ruebner, M., Untch, M., Fasching, P. A., Janni, W., Fehm, T. N., Kolberg, H-C., Wallwiener, D., Brucker, S. Y., Schneeweiss, A. & Ettl, J., 11.11.2020, In: BMC CANCER. 20, 1, p. 1091

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

  16. The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

    Brandão, A., Paulo, P., Maia, S., Pinheiro, M., Peixoto, A., Cardoso, M., Silva, M. P., Santos, C., Eeles, R. A., Kote-Jarai, Z., Muir, K., Ukgpcs Collaborators, Schleutker, J., Wang, Y., Pashayan, N., Batra, J., Apcb BioResource, Grönberg, H., Neal, D. E., Nordestgaard, B. G., Tangen, C. M., Southey, M. C., Wolk, A., Albanes, D., Haiman, C. A., Travis, R. C., Stanford, J. L., Mucci, L. A., West, C. M. L., Nielsen, S. F., Kibel, A. S., Cussenot, O., Berndt, S. I., Koutros, S., Sørensen, K. D., Cybulski, C., Grindedal, E. M., Park, J. Y., Ingles, S. A., Maier, C., Hamilton, R. J., Rosenstein, B. S., Vega, A., The Impact Study Steering Committee And Collaborators, Kogevinas, M., Wiklund, F., Penney, K. L., Brenner, H., John, E. M., Kaneva, R., Logothetis, C. J., Neuhausen, S. L., Ruyck, K. D., Razack, A., Newcomb, L. F., Canary Pass Investigators, Lessel, D., Usmani, N., Claessens, F., Gago-Dominguez, M., Townsend, P. A., Roobol, M. J., The Profile Study Steering Committee, The Practical Consortium & Teixeira, M. R., 04.11.2020, In: CANCERS. 12, 11

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

  17. Ileumpouch bei Patienten mit Zuelzer-Wilson-Syndrom – Bedeutung für die Patienten?

    Wenskus, J., Burmester, G., Staude, C., Krebs, T. & Reinshagen, K., 01.11.2020, In: MONATSSCHR KINDERH. 168, 11, p. 1032-1039 8 p.

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

  18. Brown adipose tissue lipoprotein and glucose disposal is not determined by thermogenesis in uncoupling protein 1-deficient mice

    Fischer, A. W., Behrens, J., Sass, F., Schlein, C., Heine, M., Pertzborn, P., Scheja, L. & Heeren, J., 11.2020, In: J LIPID RES. 61, 11, p. 1377-1389 13 p.

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

  19. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

    Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A., Newbury-Ecob, R. & DDD Study, 11.2020, In: GENET MED. 22, 11, p. 1920

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

  20. Ependymomas in infancy: underlying genetic alterations, histological features, and clinical outcome

    Jünger, S. T., Andreiuolo, F., Mynarek, M., Dörner, E., Zur Mühlen, A., Rutkowski, S., von Bueren, A. O. & Pietsch, T., 11.2020, In: CHILD NERV SYST. 36, 11, p. 2693-2700 8 p.

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

  21. Impact of COVID-19 pandemic on mental health of patients with inherited bleeding disorders in Germany

    von Mackensen, S., Halimeh, S., Siebert, M., Wermes, C., Hassenpflug, W., Holstein, K. & Olivieri, M., 11.2020, In: HAEMOPHILIA. 26, 6, p. e272-e281

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

  22. Intravesical monitoring of intra-abdominal pressure after renal transplantation in children: A safety and feasibility study

    Wagner, J., Herden, U., Fischer, L., Schild, R., Vettorazzi, E., Herrmann, J., Ebenebe, C. U., Singer, D. & Deindl, P., 11.2020, In: PEDIATR TRANSPLANT. 24, 7, p. e13781

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

  23. Klinisches Management der Präeklampsie

    Tallarek, A-C., Bornmann, K. & Stepan, H., 11.2020, In: Gynäkologische Praxis. 2020, 47/2, p. 242-249

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

  24. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

    Schneeberger, P. E., Nayak, S. S., Fuchs, S., Kutsche, K. & Girisha, K. M., 11.2020, In: AM J MED GENET A. 182, 11, p. 2793-2796 4 p.

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

  25. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

    Gripp, K. W., Baker, L., Robbins, K. M., Stabley, D. L., Bellus, G. A., Kolbe, V., Nauth, T. & Rosenberger, G., 11.2020, In: EUR J HUM GENET. 28, 11, p. 1548-1554 7 p.

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

  26. Treatment Landscape and Prognosis After Treatment with Trastuzumab Emtansine

    Laakmann, E., Emons, J., Taran, F-A., Janni, W., Uhrig, S., Overkamp, F., Kolberg, H-C., Hadji, P., Tesch, H., Häberle, L., Ettl, J., Lüftner, D., Wallwiener, M., Schulmeyer, C., Müller, V., Beckmann, M. W., Belleville, E., Wimberger, P., Hielscher, C., Kurbacher, C., Wuerstlein, R., Thomssen, C., Untch, M., Volz, B., Fasching, P. A., Fehm, T. N., Wallwiener, D., Brucker, S. Y., Schneeweiss, A., Lux, M. P. & Hartkopf, A. D., 11.2020, In: GEBURTSH FRAUENHEILK. 80, 11, p. e289

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

  27. Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling

    Hassani Nia, F., Woike, D., Kloth, K., Kortüm, F. & Kreienkamp, H-J., 11.2020, In: J NEUROCHEM. 155, 3, p. 250-263 14 p.

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

  28. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry

    Maeser, S., Petre, B-A., Ion, L., Rawer, S., Kohlschütter, A., Santorelli, F. M., Simonati, A., Schulz, A. & Przybylski, M., 29.10.2020, In: J MASS SPECTROM. 56, 1, e4675.

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

  29. Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus

    Hassani Nia, F., Woike, D., Martens, V., Klüssendorf, M., Hönck, H-H., Harder, S. & Kreienkamp, H-J., 28.10.2020, In: MOL AUTISM. 11, 1, p. 85

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

  30. Markers of neutrophil activation and extracellular traps formation are predictive of appendicitis in mice and humans: a pilot study

    Boettcher, M., Esser, M., Trah, J., Klohs, S., Mokhaberi, N., Wenskus, J., Trochimiuk, M., Appl, B., Reinshagen, K., Raluy, L. P. & Klinke, M., 26.10.2020, In: SCI REP-UK. 10, 1, p. 18240

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

  31. Progression-Free Survival and Overall Survival in Patients with Advanced HER2-Positive Breast Cancer Treated with Trastuzumab Emtansine (T-DM1) after Previous Treatment with Pertuzumab

    Michel, L. L., Hartkopf, A. D., Fasching, P. A., Kolberg, H-C., Hadji, P., Tesch, H., Häberle, L., Ettl, J., Lüftner, D., Wallwiener, M., Müller, V., Beckmann, M. W., Belleville, E., Volz, B., Huebner, H., Wimberger, P., Hielscher, C., Mundhenke, C., Kurbacher, C., Wuerstlein, R., Untch, M., Overkamp, F., Huober, J., Janni, W., Taran, F-A., Lux, M. P., Wallwiener, D., Brucker, S. Y., Schneeweiss, A. & Fehm, T. N., 17.10.2020, In: CANCERS. 12, 10

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

  32. Ultrasound-guided ilioinguinal-iliohypogastric block (ILIHB) or perifocal wound infiltration (PWI) in children: a prospective randomized comparison of analgesia quality, a pilot study

    Grosse, B., Eberbach, S., Pinnschmidt, H. O., Vincent, D., Schmidt-Niemann, M. & Reinshagen, K., 03.10.2020, In: BMC ANESTHESIOL. 20, 1, p. 256

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

  33. Application of two different nasal CPAP levels for the treatment of respiratory distress syndrome in preterm infants-"The OPTTIMMAL-Trial"-Optimizing PEEP To The IMMAture Lungs: study protocol of a randomized controlled trial

    Waitz, M., Engel, C., Schloesser, R., Rochwalsky, U., Meyer, S., Zemlin, M., Bohnhorst, B., Peter, C., Hoppenz, M., Pabst, T., Zimmer, K-P., Franz, A. R., Ehrhardt, H., Schmidt, A., Larsen, A., Hoffmann, P., Haertel, C., Frieauff, E., Sandkötter, J., Masjosthusmann, K., Deindl, P. & Singer, D., 01.10.2020, In: TRIALS. 21, 1, p. 822

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

  34. Glioma escape signature and clonal development under immune pressure

    Maire, C. L., Mohme, M., Bockmayr, M., Fita, K. D., Riecken, K., Börnigen, D., Alawi, M., Failla, A. V., Kolbe, K., Zapf, S., Holz, M., Neumann, K., Dührsen, L., Lange, T., Fehse, B., Westphal, M. & Lamszus, K., 01.10.2020, In: J CLIN INVEST. 130, 10, p. 5257-5271 15 p.

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

  35. IL10RA modulates crizotinib sensitivity in NPM1-ALK+ anaplastic large cell lymphoma

    Prokoph, N., Probst, N. A., Lee, L. C., Monahan, J. M., Matthews, J. D., Liang, H-C., Bahnsen, K., Montes-Mojarro, I. A., Karaca Atabay, E., Sharma, G. G., Malik, V., Larose, H., Forde, S. D., Ducray, S. P., Lobello, C., Wang, Q., Luan, S-L., Pospisilova, S., Gambacorti-Passerini, C. B., Burke, A., Pervez, S., Attarbaschi, A., Janikova, A., Pacquement, H., Landman-Parker, J., Lambilliotte, A., Schleiermacher, G., Klapper, W., Jauch, R., Woessmann, W., Vassal, G., Kenner, L., Merkel, O., Mologni, L., Chiarle, R., Brugieres, L., Geoerger, B., Barbieri, I. & Turner, S. D., 01.10.2020, In: BLOOD. 136, 14, p. 1657-1669 13 p.

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

  36. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H., Ferrer, A., Gal, D., Bartik, L. E., Gunderson, L. B., Hasadsri, L., Jain, M., Karimov, C., Keena, B., Klee, E. W., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, J. L., Milunsky, J. M., Napier, M. P., Ortiz-Gonzalez, X. R., Pichurin, P. N., Pinner, J., Powis, Z., Prasad, C., Radio, F. C., Rasmussen, K. J., Renaud, D. L., Rush, E. T., Saunders, C., Selcen, D., Seman, A. R., Shinde, D. N., Smith, E. D., Smol, T., Snijders Blok, L., Stoler, J. M., Tang, S., Tartaglia, M., Thompson, M. L., van de Kamp, J. M., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E. H., Zampino, G., Campeau, P. & Bhoj, E., 10.2020, In: EUR J HUM GENET. 28, 10, p. 1422-1431 10 p.

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

  37. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

    Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., de Vries, E., van der Meer, J. W. M., Ameratunga, R., Roifman, C. M., Schejter, Y. D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R. E., Schröder, C., Stepensky, P., Shadur, B., Pedroza, L. A., van der Flier, M., Martínez-Gallo, M., Gonzalez-Granado, L. I., Allende, L. M., Shcherbina, A., Kuzmenko, N., Zakharova, V., Neves, J. F., Svec, P., Fischer, U., Ip, W., Bartsch, O., Barış, S., Klein, C., Geha, R., Chou, J., Alosaimi, M., Weintraub, L., Boztug, K., Hirschmugl, T., Dos Santos Vilela, M. M., Holzinger, D., Seidl, M., Lougaris, V., Plebani, A., Alsina, L., Piquer-Gibert, M., Deyà-Martínez, A., Slade, C. A., Aghamohammadi, A., Abolhassani, H., Hammarström, L., Kuismin, O., Helminen, M., Allen, H. L., Thaventhiran, J. E., Freeman, A. F., Cook, M., Bakhtiar, S., Christiansen, M., Cunningham-Rundles, C., Patel, N. C., Rae, W., Niehues, T., Brauer, N., Syrjänen, J., Seppänen, M. R. J., Burns, S. O., Tuijnenburg, P., Kuijpers, T. W., Warnatz, K., Grimbacher, B. & NIHR BioResource, 10.2020, In: J ALLERGY CLIN IMMUN. 146, 4, p. 901-911 11 p.

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

  38. Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers

    Szederjesi, A., Baronciani, L., Budde, U., Castaman, G., Colpani, P., Lawrie, A. S., Liu, Y., Montgomery, R., Peyvandi, F., Schneppenheim, R., Patzke, J. & Bodó, I., 10.2020, In: J THROMB HAEMOST. 18, 10, p. 2513-2523 11 p.

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

  39. Fear of progression in parents of childhood cancer survivors: A Dyadic data analysis

    Peikert, M. L., Inhestern, L., Krauth, K. A., Escherich, G., Rutkowski, S., Kandels, D. & Bergelt, C., 10.2020, In: PSYCHO-ONCOLOGY. 29, 10, p. 1678-1685 8 p.

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

  40. Frühgeborene an der Grenze der Lebensfähigkeit (Entwicklungsstufe S2k, AWMF-Leitlinien-Register Nr. 024/019, Juni 2020)

    Bührer, C., Felderhoff-Müser, U., Gembruch, U., Hecher, K., Kainer, F., Kehl, S., Kidszun, A., Kribs, A., Krones, T., Lipp, V., Maier, R. F., Mitschdörfer, B., Nicin, T., Roll, C. & Schindler, M., 10.2020, In: Z GEBURTSH NEONATOL. 224, 5, p. 244-254 11 p.

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

  41. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

    Eggermann, T., Kraft, F., Kloth, K., Klopocki, E., Hüning, I., Hempel, M. & Kunstmann, E., 10.2020, In: CLIN GENET. 98, 4, p. 418-419 2 p.

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

  42. IL22BP Mediates the Anti-Tumor Effects of Lymphotoxin Against Colorectal Tumors in Mice and Humans

    Kempski, J., Giannou, A. D., Riecken, K., Zhao, L., Steglich, B., Lücke, J., Garcia-Perez, L., Karstens, K-F., Wöstemeier, A., Nawrocki, M., Pelczar, P., Witkowski, M., Nilsson, S., Konczalla, L., Shiri, A. M., Kempska, J., Wahib, R., Brockmann, L., Huber, P., Gnirck, A-C., Turner, J-E., Zazara, D. E., Arck, P. C., Stein, A., Simon, R., Daubmann, A., Meiners, J., Perez, D., Strowig, T., Koni, P., Kruglov, A. A., Sauter, G., Izbicki, J. R., Guse, A. H., Roesch, T., Lohse, A. W., Flavell, R. A., Gagliani, N. & Huber, S., 10.2020, In: GASTROENTEROLOGY. 159, 4, p. 1417-1430.e3

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

  43. Kindeswohlgefährdung – Ausweitung des Hellfeldes durch Neukonzeption der klinischen Kinderschutzarbeit

    Schmidt, C. M., Klein, S., Stock, P., Reinshagen, K. & Königs, I., 10.2020, In: BUNDESGESUNDHEITSBLA. 63, 10, p. 1241-1249 9 p.

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

  44. Leukemia-induced dysfunctional TIM-3+CD4+ bone marrow T cells increase risk of relapse in pediatric B-precursor ALL patients

    Blaeschke, F., Willier, S., Stenger, D., Lepenies, M., Horstmann, M. A., Escherich, G., Zimmermann, M., Rojas Ringeling, F., Canzar, S., Kaeuferle, T., Rohlfs, M., Binder, V., Klein, C. & Feuchtinger, T., 10.2020, In: LEUKEMIA. 34, 10, p. 2607-2620 14 p.

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

  45. Multiclass cancer classification in fresh frozen and formalin-fixed paraffin-embedded tissue by DigiWest multiplex protein analysis

    Bockmayr, T., Erdmann, G., Treue, D., Jurmeister, P., Schneider, J., Arndt, A., Heim, D., Bockmayr, M., Sachse, C. & Klauschen, F., 10.2020, In: LAB INVEST. 100, 10, p. 1288-1299 12 p.

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

  46. Successful Stem Cell Apheresis Using Spectra Optia in a 6 kg Child With Atypical Teratoid/Rhabdoid Tumor

    Brust, P., Schubert, C., Blohm, M. & Winkler, B., 10.2020, In: J PEDIAT HEMATOL ONC. 42, 7, p. e692-e695

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

  47. Treosulfan-fludarabine-thiotepa-based conditioning treatment before allogeneic hematopoietic stem cell transplantation for pediatric patients with hematological malignancies

    Kalwak, K., Mielcarek, M., Patrick, K., Styczynski, J., Bader, P., Corbacioglu, S., Burkhardt, B., Sykora, K. W., Drabko, K., Gozdzik, J., Fagioli, F., Greil, J., Gruhn, B., Beier, R., Locatelli, F., Müller, I., Schlegel, P. G., Sedlacek, P., Stachel, K. D., Hemmelmann, C., Möller, A-K., Baumgart, J. & Vora, A., 10.2020, In: BONE MARROW TRANSPL. 55, 10, p. 1996-2007 12 p.

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

  48. Longitudinal adrenal gland measurements and growth trajectories as risk markers for late preterm delivery

    Goletzke, J., Pagenkemper, M., Wiessner, C., Rüber, F., Arck, P., Hecher, K. & Diemert, A., 29.09.2020, In: BMC PREGNANCY CHILDB. 20, 1, p. 570

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

  49. Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

    Burgmaier, K., Ariceta, G., Bald, M., Buescher, A. K., Burgmaier, M., Erger, F., Gessner, M., Gokce, I., König, J., Kowalewska, C., Massella, L., Mastrangelo, A., Mekahli, D., Pape, L., Patzer, L., Potemkina, A., Schalk, G., Schild, R., Shroff, R., Szczepanska, M., Taranta-Janusz, K., Tkaczyk, M., Weber, L. T., Wühl, E., Wurm, D., Wygoda, S., Zagozdzon, I., Dötsch, J., Oh, J., Schaefer, F., Liebau, M. C. & ARegPKD consortium, 29.09.2020, In: SCI REP-UK. 10, 1, p. 16025

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

  50. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 271

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

  51. Long-term cognitive deficits in pediatric low-grade glioma (LGG) survivors reflect pretreatment conditions-report from the German LGG studies

    Traunwieser, T., Kandels, D., Pauls, F., Pietsch, T., Warmuth-Metz, M., Bison, B., Krauss, J., Kortmann, R-D., Timmermann, B., Thomale, U-W., Luettich, P., Neumann-Holbeck, A., Tischler, T., Hernáiz Driever, P., Witt, O. & Gnekow, A. K., 25.09.2020, In: NEURO-ONCOL ADV. 2, 1, vdaa094.

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

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