Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2022

  2. Sanfilippo syndrome: consensus guidelines for clinical care

    Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., O'Neill, C. & MPS III Guideline Development Group, 27.10.2022, In: ORPHANET J RARE DIS. 17, 1, p. 391

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

  3. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

    Pechmann, A., Behrens, M., Dörnbrack, K., Tassoni, A., Wenzel, F., Stein, S., Vogt, S., Zöller, D., Bernert, G., Hagenacker, T., Schara-Schmidt, U., Walter, M. C., Bertsche, A., Vill, K., Baumann, M., Baumgartner, M., Cordts, I., Eisenkölbl, A., Flotats-Bastardas, M., Friese, J., Günther, R., Hahn, A., Horber, V., Husain, R. A., Illsinger, S., Jahnel, J., Johannsen, J., Köhler, C., Kölbel, H., Müller, M., von Moers, A., Schwerin-Nagel, A., Reihle, C., Schlachter, K., Schreiber, G., Schwartz, O., Smitka, M., Steiner, E., Trollmann, R., Weiler, M., Weiß, C., Wiegand, G., Wilichowski, E., Ziegler, A., Lochmüller, H., Kirschner, J. & SMArtCARE study group, 23.10.2022, In: ORPHANET J RARE DIS. 17, 1, 384.

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

  4. CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry

    Heinl, E-S., Lorenz, S., Schmidt, B., Nasser M Laqtom, N., Mazzulli, J. R., Francelle, L., Yu, T. W., Greenberg, B., Storch, S., Tegtmeier, I., Othmen, H., Maurer, K., Steinfurth, M., Witzgall, R., Milenkovic, V., Wetzel, C. H. & Reichold, M., 21.10.2022, In: ISCIENCE. 25, 10, 105082.

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

  5. Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings

    Wiegand-Grefe, S., Liedtke, A., Morgenstern, L., Hoff, A., Csengoe-Norris, A., Johannsen, J., Denecke, J., Barkmann, C., Grolle, B., Daubmann, A., Wegscheider, K. & Boettcher, J., 14.10.2022, In: BMC PEDIATR. 22, 1, p. 596 596.

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

  6. OP03.03: Factors influencing transplacental transmission of IgG antibodies providing newborns with maternal passive immunity after COVID-19 in pregnancy

    Tallarek, A-C., Hollwitz, B., Lütgehetmann, M., Arck, P., Diemert, A. & Hecher, K., 14.10.2022, In: ULTRASOUND OBST GYN. 58, S1, p. 65-66

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research

  7. Comprehensive profiling of myxopapillary ependymomas identifies a distinct molecular subtype with relapsing disease

    Bockmayr, M., Harnisch, K., Pohl, L. C., Schweizer, L., Mohme, T., Körner, M., Alawi, M., Suwala, A. K., Dorostkar, M. M., Monoranu, C. M., Hasselblatt, M., Wefers, A. K., Capper, D., Hench, J., Frank, S., Richardson, T. E., Tran, I., Liu, E., Snuderl, M., Engertsberger, L., Benesch, M., von Deimling, A., Obrecht, D., Mynarek, M., Rutkowski, S., Glatzel, M., Neumann, J. E. & Schüller, U., 03.10.2022, In: NEURO-ONCOLOGY. 24, 10, p. 1689-1699 11 p.

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

  8. Prognosis of Children Undergoing Liver Transplantation: A 30-Year European Study

    Baumann, U., Karam, V., Adam, R., Fondevila, C., Dhawan, A., Sokal, E., Jacquemin, E., Kelly, D. A., Grabhorn, E., Pawlowska, J., D'Antiga, L., Jara Vega, P., Debray, D., Polak, W. G., de Ville de Goyet, J., Verkade, H. J. & European Liver and Intestine Transplant Association (ELITA) and all ELTR contributing centers, 01.10.2022, In: PEDIATRICS. 150, 4, e2022057424.

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

  9. Kigelia africana inhibits proliferation and induces cell death in stage 4 Neuroblastoma cell lines

    Ahrens, S., Appl, B., Trochimiuk, M., Dücker, C., Feixas Serra, G., Oliver Grau, A., Reinshagen, K. & Pagerols Raluy, L., 10.2022, In: BIOMED PHARMACOTHER. 154, 113584.

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

  10. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Okur, I., Ezgu, F., Giugliani, R., Muschol, N., Koehn, A., Amartino, H., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S-P., Batzios, S., Cleary, M., Solano, M., Peters, H., Lee, J., Nestrasil, I., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., 10.2022, In: J PEDIATR-US. 249, p. 50-58.e2 9 p.

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

  11. Mental Health of Siblings of Children with Rare Congenital Surgical Diseases during the COVID-19 Pandemic

    Boettcher, J., Nazarian, R., Fuerboeter, M., Liedtke, A., Wiegand-Grefe, S., Reinshagen, K. & Boettcher, M., 10.2022, In: EUR J PEDIATR SURG. 32, 5, p. 422-428 7 p.

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

  12. MR Imaging and Clinical Characteristics of Diffuse Glioneuronal Tumor with Oligodendroglioma-like Features and Nuclear Clusters

    Benesch, M., Perwein, T., Apfaltrer, G., Langer, T., Neumann, A., Brecht, I. B., Schuhmann, M. U., Cario, H., Frühwald, M. C., Vollert, K., van Buiren, M., Deng, M. Y., Seitz, A., Haberler, C., Mynarek, M., Kramm, C., Sahm, F., Robe, P. A., Dankbaar, J. W., Hoff, K. V., Warmuth-Metz, M. & Bison, B., 10.2022, In: AM J NEURORADIOL. 43, 10, p. 1523-1529 7 p.

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

  13. Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker

    Hochstein, J-N., Schulz, A., Nickel, M., Lezius, S., Grosser, M., Fiehler, J., Sedlacik, J. & Löbel, U., 10.2022, In: NEURORADIOLOGY. 64, 10, p. 2059-2067 9 p.

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

  14. Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers

    Lacher, M., Barthlen, W., Eckoldt, F., Fitze, G., Fuchs, J., Hosie, S., Kaiser, M. M., Meyer, T., Muensterer, O. J., Reinshagen, K., Rothe, K., Seitz, G., Stuhldreier, G., Troebs, R-B., Ure, B., von Schweinitz, D., Wessel, L., Wünsch, L. & Rolle, U., 10.2022, In: EUR J PEDIATR SURG. 32, 5, p. 391-398 8 p.

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

  15. Osteonekrosen – gravierende Therapiefolge bei akuter lymphoblastischer Leukämie

    Kuhlen, M., Kunstreich, M., Gökbuget, N. & Escherich, G., 10.2022, In: ORTHOPADIE. 51, 10, p. 792-799 8 p.

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

  16. Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

    Tibbe, D., Ferle, P., Krisp, C., Nampoothiri, S., Mirzaa, G., Assaf, M., Parikh, S., Kutsche, K. & Kreienkamp, H-J., 10.2022, In: LIFE SCI ALLIANCE. 5, 10, e202201512.

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

  17. Telementoring of Open and Laparoscopic Knot Tying and Suturing Is Possible: A Randomized Controlled Study

    Elrod, J., Boettcher, J., Vincent, D., Schwarz, D., Trautmann, T., Reinshagen, K. & Boettcher, M., 10.2022, In: EUR J PEDIATR SURG. 32, 5, p. 443-451 9 p.

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

  18. Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report

    Schwering, C., Apostolidou, S., Deindl, P., Christner, M., Knobloch, J. K-M., Herrmann, J., Kobbe, R., Schulz, A., Singer, D. & Ebenebe, C. U., 10.2022, In: NEUROPEDIATRICS. 53, 5, p. 381-384 4 p.

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

  19. The recent outbreak of acute severe hepatitis in children of unknown origin - what is known so far

    Lurz, E., Lenz, D., Bufler, P., Fichtner, A., Henning, S., Jankofsky, M., Kathemann, S., Melter, M., Oh, J., Pfister, E. D., Sturm, E., Knoppke, B. & Lainka, E., 10.2022, In: J HEPATOL. 77, 4, p. 1214-1215 2 p.

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

  20. Twelve-month observational study of children with cancer in 41 countries during the COVID-19 pandemic

    Global Health Research Group on Children’s Non-Communicable Diseases Collaborative, 10.2022, In: BMJ GLOB HEALTH. 7, 10, e008797.

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

  21. Editorial: The placenta, fetomaternal tolerance and beyond: A tribute to Sir Peter Medawar on the 60th anniversary of his Nobel Prize

    Barrientos, G., Solano, M. E., Blois, S. M. & Sharma, S., 21.09.2022, In: FRONT IMMUNOL. 13, 1021885.

    Research output: SCORING: Contribution to journal › Editorial › Research

  22. A conformational transition of the D'D3 domain primes von Willebrand factor for multimerization

    Gruber, S., Löf, A., Hausch, A., Kutzki, F., Jöhr, R., Obser, T., König, G., Schneppenheim, R., Aponte-Santamaría, C., Gräter, F., Brehm, M. A., Benoit, M. & Lipfert, J., 13.09.2022, In: BLOOD ADV. 6, 17, p. 5198-5209 12 p.

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

  23. Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics

    Reischl-Hajiabadi, A. T., Garbade, S. F., Feyh, P., Weiss, K. H., Mütze, U., Kölker, S., Hoffmann, G. F. & Gramer, G., 13.09.2022, In: NUTRIENTS. 14, 18, 3767.

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

  24. Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine

    Niemann, B., Haufs-Brusberg, S., Puetz, L., feickert, M., Jaeckstein, M. Y., Hoffmann, A., Zurkovic, J., Heine, M., Trautmann, E-M., Müller, CE., Tönies, A., Schlein, C., Jafari, A., Eltzsching, H. K., Gnad, T., Blüher, M., Krahmer, N., Kovacs, P., Heeren, J. & Pfeifer, A., 08.09.2022, In: NATURE. 609, 7926, p. 361–368 8 p.

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

  25. Association study between polymorphisms in DNA methylation-related genes and testicular germ cell tumor risk

    Grasso, C., Popovic, M., Isaevska, E., Lazzarato, F., Fiano, V., Zugna, D., Pluta, J., Weathers, B., D'Andrea, K., Almstrup, K., Anson-Cartwright, L., Bishop, D. T., Chanock, S. J., Chen, C., Cortessis, V. K., Dalgaard, M. D., Daneshmand, S., Ferlin, A., Foresta, C., Frone, M. N., Gamulin, M., Gietema, J. A., Greene, M. H., Grotmol, T., Hamilton, R. J., Haugen, T. B., Hauser, R., Karlsson, R., Kiemeney, L. A., Lessel, D., Lista, P., Lothe, R. A., Loveday, C., Meijer, C., Nead, K. T., Nsengimana, J., Skotheim, R. I., Turnbull, C., Vaughn, D. J., Wiklund, F., Zheng, T., Zitella, A., Schwartz, S. M., McGlynn, K. A., Kanetsky, P. A., Nathanson, K. L. & Richiardi, L., 02.09.2022, In: CANCER EPIDEM BIOMAR. 31, 9, p. 1769-1779 11 p.

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

  26. SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome

    Hasselblatt, M., Thomas, C., Federico, A., Nemes, K., Johann, P. D., Bison, B., Bens, S., Dahlum, S., Kordes, U., Redlich, A., Lessel, L., Pajtler, K. W., Mawrin, C., Schüller, U., Nolte, K., Kramm, C. M., Hinz, F., Sahm, F., Giannini, C., Penkert, J., Kratz, C. P., Pfister, S. M., Siebert, R., Paulus, W., Kool, M. & Frühwald, M. C., 01.09.2022, In: AM J SURG PATHOL. 46, 9, p. 1277-1283 7 p.

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

  27. Vertical anti-SARS-CoV-2 monoclonal antibody transfer from mothers to HIV-exposed and unexposed infants

    Kobbe, R., Schulze-Sturm, U., Kurnaz, P., Rau, C., Tallarek, A-C., Lütgehetmann, M., Jordan, S. & Schmiedel, S., 01.09.2022, In: AIDS. 36, 11, p. 1613-1615 3 p.

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

  28. Anatomic accuracy, physiologic characteristics, and fidelity of very low birth weight infant airway simulators

    Hinojosa, P. L., Eifinger, F., Wagner, M., Herrmann, J., Wolf, M., Ebenebe, C. U., von der Wense, A., Jung, P., Mai, A., Bohnhorst, B., Longardt, A. C., Hillebrand, G., Schmidtke, S., Guthmann, F., Aderhold, M., Schwake, I., Sprinz, M., Singer, D. & Deindl, P., 09.2022, In: PEDIATR RES. 92, 3, p. 783-790 8 p.

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

  29. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

    Lindsey-Temple, S., Edwards, M., Rickassel, V., Nauth, T. & Rosenberger, G., 09.2022, In: EUR J HUM GENET. 30, 9, p. 1088-1093 6 p.

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

  30. Anti-SARS-CoV-2 antibodies in breast milk during lactation after infection or vaccination: A cohort study

    Olearo, F., Radmanesh, L-S., Felber, N., von Possel, R., Emmerich, P., Pekarek, N., Pfefferle, S., Nörz, D., Hansen, G., Diemert, A., Aepfelbacher, M., Hecher, K., Lütgehetmann, M., Arck, P. C. & Tallarek, A-C., 09.2022, In: J REPROD IMMUNOL. 153, 103685.

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

  31. Artificial intelligence and pathology: From principles to practice and future applications in histomorphology and molecular profiling

    Stenzinger, A., Alber, M., Allgäuer, M., Jurmeister, P., Bockmayr, M., Budczies, J., Lennerz, J., Eschrich, J., Kazdal, D., Schirmacher, P., Wagner, A. H., Tacke, F., Capper, D., Müller, K-R. & Klauschen, F., 09.2022, In: SEMIN CANCER BIOL. 84, p. 129-143 15 p.

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

  32. Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)

    Holling, T., Lisfeld, J., Johannsen, J., Matschke, J., Song, F., Altmeppen, H. C. & Kutsche, K., 09.2022, In: HUM MUTAT. 43, 9, p. 1224-1233 10 p.

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

  33. Characterization of IG-MYC-breakpoints and their application for quantitative minimal disease monitoring in high-risk pediatric Burkitt-lymphoma and -leukemia

    Möker, P., Zur Stadt, U., Zimmermann, M., Alawi, M., Mueller, S., Finger, J., Knörr, F., Riquelme, A., Oschlies, I., Klapper, W., Bradtke, J., Burkhardt, B., Woessmann, W. & Damm-Welk, C., 09.2022, In: LEUKEMIA. 36, 9, p. 2343-2346 4 p.

    Research output: SCORING: Contribution to journal › Letter › Research

  34. Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system

    Klein, M., Kaleem, A., Oetjen, S., Wünkhaus, D., Binkle, L., Schilling, S., Gjorgjieva, M., Scholz, R., Gruber-Schoffnegger, D., Storch, S., Kins, S., Drewes, G., Hoffmeister-Ullerich, S., Kuhl, D. & Hermey, G., 09.2022, In: AUTOPHAGY. 18, 9, p. 2068-2085 18 p.

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

  35. Dolutegravir twice-daily dosing in children with HIV-associated tuberculosis: a pharmacokinetic and safety study within the open-label, multicentre, randomised, non-inferiority ODYSSEY trial

    Turkova, A., Waalewijn, H., Chan, M. K., Bollen, P. D. J., Bwakura-Dangarembizi, M. F., Kekitiinwa, A. R., Cotton, M. F., Lugemwa, A., Variava, E., Ahimbisibwe, G. M., Srirompotong, U., Mumbiro, V., Amuge, P., Zuidewind, P., Ali, S. S., Kityo, C. M., Archary, M., Ferrand, R. A., Violari, A., Gibb, D. M., Burger, D., Ford, D., Colbers, A. & ODYSSEY Trial Team, 09.2022, In: LANCET HIV. 9, 9, p. E627-E637

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

  36. Global effort to evacuate Ukrainian children with cancer and blood disorders who have been affected by war

    Agulnik, A., Kizyma, R., Salek, M., Wlodarski, M. W., Pogorelyy, M., Oszer, A., Yakimkova, T., Nogovitsyna, Y., Dutkiewicz, M., Dalle, J-H., Dirksen, U., Eggert, A., Fernández-Teijeiro, A., Greiner, J., Kraal, K., Mueller, A., Sramkova, L., Zecca, M., Wise, P. H., Mlynarski, W. & SAFER Ukraine Collaborative, 09.2022, In: LANCET HAEMATOL. 9, 9, p. e645-e647

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

  37. Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs

    Schmid-Herrmann, C. U., Muschol, N., Fuhrmann, V., Koehn, A. F., Lezius, S., Kahl-Nieke, B. & Koehne, T., 09.2022, In: INT J PAEDIATR DENT. 32, 5, p. 737-744 8 p.

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

  38. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

    Seiffert, S., Pendziwiat, M., Bierhals, T., Goel, H., Schwarz, N., van der Ven, A., Boßelmann, C. M., Lemke, J., Syrbe, S., Willemsen, M. H., Hedrich, U. B. S., Helbig, I. & Weber, Y., 09.2022, In: EBIOMEDICINE. 83, 104234.

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

  39. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

    König, J. C., Karsay, R., Gerß, J., Schlingmann, K-P., Dahmer-Heath, M., Telgmann, A-K., Kollmann, S., Ariceta, G., Gillion, V., Bockenhauer, D., Bertholet-Thomas, A., Mastrangelo, A., Boyer, O., Lilien, M., Decramer, S., Schanstra, J. P., Pohl, M., Schild, R., Weber, S., Hoefele, J., Drube, J., Cetiner, M., Hansen, M., Thumfart, J., Tönshoff, B., Habbig, S., Liebau, M. C., Bald, M., Bergmann, C., Pennekamp, P., Konrad, M. & NEOCYST consortium, 09.2022, In: KIDNEY INT REP. 7, 9, p. 2016-2028 13 p.

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

  40. Timing of reconstruction of the lower urinary tract in pediatric kidney transplant recipients: A CERTAIN multicenter analysis of current practice

    Patry, C., Höcker, B., Dello Strologo, L., Baumann, L., Grenda, R., Peruzzi, L., Oh, J., Pape, L., Weber, L. T., Weitz, M., Awan, A., Carraro, A., Zirngibl, M., Hansen, M., Müller, D., Bald, M., Pecqueux, C., Krupka, K., Fichtner, A., Tönshoff, B. & Nyarangi-Dix, J., 09.2022, In: PEDIATR TRANSPLANT. 26, 6, e14328.

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

  41. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

    Bölsterli, B. K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A. L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F. M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J. A., Prokisch, H. & Wortmann, S. B., 31.08.2022, In: NUTRIENTS. 14, 17, 3605.

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

  42. PDGFRβ promotes oncogenic progression via STAT3/STAT5 hyperactivation in anaplastic large cell lymphoma

    Garces de Los Fayos Alonso, I., Zujo, L., Wiest, I., Kodajova, P., Timelthaler, G., Edtmayer, S., Zrimšek, M., Kollmann, S., Giordano, C., Kothmayer, M., Neubauer, H. A., Dey, S., Schlederer, M., Schmalzbauer, B. S., Limberger, T., Probst, C., Pusch, O., Högler, S., Tangermann, S., Merkel, O., Schiefer, A. I., Kornauth, C., Prutsch, N., Zimmerman, M., Abraham, B., Anagnostopoulos, J., Quintanilla-Martinez, L., Mathas, S., Wolf, P., Stoiber, D., Staber, P. B., Egger, G., Klapper, W., Woessmann, W., Look, T. A., Gunning, P., Turner, S. D., Moriggl, R., Lagger, S. & Kenner, L., 31.08.2022, In: MOL CANCER. 21, 1, p. 172

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

  43. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Dahimene, S., von Elsner, L., Holling, T., Mattas, L. S., Pickard, J., Lessel, D., Pilch, K. S., Kadurin, I., Pratt, W. S., Zhulin, I. B., Dai, H., Hempel, M., Ruzhnikov, M. R. Z., Kutsche, K. & Dolphin, A. C., 27.08.2022, In: BRAIN. 145, 8, p. 2721-2729 9 p.

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

  44. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Burton, B. K., Hermida, Á., Bélanger-Quintana, A., Bell, H., Bjoraker, K. J., Christ, S. E., Grant, M. L., Harding, C. O., Huijbregts, S. C. J., Longo, N., McNutt, M. C., Nguyen-Driver, M. D., Santos Pessoa, A. L., Rocha, J. C., Sacharow, S., Sanchez-Valle, A., Sivri, H. S., Vockley, J., Walterfang, M., Whittle, S. & Muntau, A. C., 27.08.2022, In: MOL GENET METAB. 137, 1-2, p. 114-126 13 p.

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

  45. Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel

    Bauer, C. K., Holling, T., Horn, D., Laço, M. N., Abdalla, E., Omar, O. M., Alawi, M. & Kutsche, K., 26.08.2022, In: INT J MOL SCI. 23, 17, 9690.

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

  46. Einmalige Möglichkeit für doppelten Nutzen: Impfungen in der Schwangerschaft

    Tallarek, A-C., Hollwitz, B. & Diemert, A., 26.08.2022, In: GYNAKOLOGE. 55, p. 654-659 6 p.

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

  47. Extrahepatic Bile Duct and Gall Bladder Dissection in Nine-Day-Old Mouse Neonates

    Schmidt, H. C., Hagens, J., Schuppert, P., Philippi, C., Reinshagen, K. & Tomuschat, C., 23.08.2022, In: JOVE-J VIS EXP. 186, e64424.

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

  48. A personalized medicine approach for phenylketonuria patients

    Gundorova, P., Danecka, M. K., Woidy, M. & Gersting, S. W., 16.08.2022, In: J INHERIT METAB DIS. 45, S1, p. 473 SSIEM22-2133.

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

  49. Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

    Penkert, J., Strüwe, F. J., Dutzmann, C. M., Doergeloh, B. B., Montellier, E., Freycon, C., Keymling, M., Schlemmer, H-P., Sänger, B., Hoffmann, B., Gerasimov, T., Blattmann, C., Fetscher, S., Frühwald, M., Hettmer, S., Kordes, U., Ridola, V., Kroiss Benninger, S., Mastronuzzi, A., Schott, S., Nees, J., Prokop, A., Redlich, A., Seidel, M. G., Zimmermann, S., Pajtler, K. W., Pfister, S. M., Hainaut, P. & Kratz, C. P., 16.08.2022, In: J HEMATOL ONCOL. 15, 1, 107.

    Research output: SCORING: Contribution to journal › Letter › Research

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

    Prondzynski, M., Lemoine, M. D., Zech, A. T., Horváth, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F. W., Münch, J., Laufer, S. D., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 08.08.2022, In: EMBO MOL MED. 14, 8, e16423.

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

  51. Pregnancy-induced maternal microchimerism shapes neurodevelopment and behavior in mice

    Schepanski, S., Chini, M., Sternemann, V., Urbschat, C., Thiele, K., Sun, T., Zhao, Y., Poburski, M., Woestemeier, A., Thieme, M-T., Zazara, D. E., Alawi, M., Fischer, N., Heeren, J., Vladimirov, N., Woehler, A., Puelles, V. G., Bonn, S., Gagliani, N., Hanganu-Opatz, I. L. & Arck, P. C., 05.08.2022, In: NAT COMMUN. 13, 1, 4571.

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

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