Forschung

1) Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.Holsten T, Bens S, Oyen F, Nemes K, Hasselblatt M, Kordes U, Siebert R, Frühwald MC, Schneppenheim R, Schüller U. Eur J Hum Genet. 2018 Apr 30. doi: 10.1038/s41431-018-0143-1.

2) KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition? Behnert A, Auber B, Steinemann D, Frühwald MC, Huisinga C, Hussein K, Kratz C, Ripperger T. Am J Med Genet A. 2018 Apr 25. doi: 10.1002/ajmg.a.38724

3) DNA methylation-based classification of central nervous system tumours. Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Hölsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Brück W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hänggi D, Hans V, Rozsnoki S, Hansford JR, Kohlhof P, Kristensen BW, Lechner M, Lopes B, Mawrin C, Ketter R, Kulozik A, Khatib Z, Heppner F, Koch A, Jouvet A, Keohane C, Mühleisen H, Mueller W, Pohl U, Prinz M, Benner A, Zapatka M, Gottardo NG, Driever PH, Kramm CM, Müller HL, Rutkowski S, von Hoff K, Frühwald MC, Gnekow A, Fleischhack G, Tippelt S, Calaminus G, Monoranu CM, Perry A, Jones C, Jacques TS, Radlwimmer B, Gessi M, Pietsch T, Schramm J, Schackert G, Westphal M, Reifenberger G, Wesseling P, Weller M, Collins VP, Blümcke I, Bendszus M, Debus J, Huang A, Jabado N, Northcott PA, Paulus W, Gajjar A, Robinson GW, Taylor MD, Jaunmuktane Z, Ryzhova M, Platten M, Unterberg A, Wick W, Karajannis MA, Mittelbronn M, Acker T, Hartmann C, Aldape K, Schüller U, Buslei R, Lichter P, Kool M, Herold-Mende C, Ellison DW, Hasselblatt M, Snuderl M, Brandner S, Korshunov A, von Deimling A, Pfister SM. Nature. 2018 Mar 14. doi: 10.1038/nature26000. [Epub ahead of print]

4) The landscape of genomic alterations across childhood cancers. Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM. Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28

5) The extraordinary challenge of treating patients with congenital rhabdoid tumors-a collaborative European effort. Nemes K, Clément N, Kachanov D, Bens S, Hasselblatt M, Timmermann B, Schneppenheim R, Gerss J, Siebert R, Furtwängler R, Bourdeaut F, Frühwald MC; EU-RHAB consortium. Pediatr Blood Cancer. 2018 Feb 8. doi: 10.1002/pbc.26999. [Epub ahead of print]

6) Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup. Johann PD, Bens S, Oyen F, Wagener R, Giannini C, Perry A, Raisanen JM, Reis GF, Nobusawa S, Arita K, Felsberg J, Reifenberger G, Agaimy A, Buslei R, Capper D, Pfister SM, Schneppenheim R, Siebert R, Frühwald MC, Paulus W, Kool M, Hasselblatt M. Am J Surg Pathol. 2018 Jan 10. doi: 10.1097/PAS.0000000000001023. [Epub ahead of print]

7) High-dose treatment for malignant rhabdoid tumor of the kidney: No evidence for improved survival-The Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH) experience. Furtwängler R, Kager L, Melchior P, Rübe C, Ebinger M, Nourkami-Tutdibi N, Niggli F, Warmann S, Hubertus J, Amman G, Leuschner I, Vokuhl C, Graf N, Frühwald MC. Pediatr Blood Cancer. 2018 Jan;65(1)]

8) Reduced histone H3 K27 trimethylation is encountered in about 50% of atypical teratoid/rhabdoid tumors (AT/RT) but is not associated with molecular subgroup status and outcome. Hasselblatt M, Johann PD, Kool M, Frühwald MC. Acta Neuropathol. 2017 Nov;134(5):817-818.

9) BRD9 Inhibition, Alone or in Combination with Cytostatic Compounds as a Therapeutic Approach in Rhabdoid Tumors. Krämer KF, Moreno N, Frühwald MC, Kerl K. Int J Mol Sci. 2017 Jul 16; 18, 1537; doi:10.3390/ijms18071537

10) Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP. Am J Med Genet A. 2017 Apr;173(4):1017-1037.

11) SMAD dependent signaling plays a detrimental role in a fly model of SMARCB1-deficiency and the biology of atypical teratoid/rhabdoid tumors. Jeibmann A, Schulz J, Eikmeier K, Johann PD, Thiel K, Tegeder I, Ambrée O, Frühwald MC, Pfister SM, Kool M, Paulus W, Hasselblatt M. J Neurooncol. 2017 Feb;131(3):477-484.

12) Pediatric reference intervals for alkaline phosphatase. Zierk J, Arzideh F, Haeckel R, Cario H, Frühwald MC, Groß HJ, Gscheidmeier T, Hoffmann R, Krebs A, Lichtinghagen R, Neumann M, Ruf HG, Steigerwald U, Streichert T, Rascher W, Metzler M, Rauh M. Clin Chem Lab Med. 2017 Jan 1;55(1):102-110.

13) Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study. Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, Boudalil M, Previti C, Wolf S, Schmidt S, Chotewutmontri S, Bewerunge-Hudler M, Schick M, Schlesner M, Hutter B, Taylor L, Borst T, Sutter C, Bartram CR, Milde T, Pfaff E, Kulozik AE, von Stackelberg A, Meisel R, Borkhardt A, Reinhardt D, Klusmann JH, Fleischhack G, Tippelt S, Dirksen U, Jürgens H, Kramm CM, von Bueren AO, Westermann F, Fischer M, Burkhardt B, Wößmann W, Nathrath M, Bielack SS, Frühwald MC, Fulda S, Klingebiel T, Koscielniak E, Schwab M, Tremmel R, Driever PH, Schulte JH, Brors B, von Deimling A, Lichter P, Eggert A, Capper D, Pfister SM, Jones DT, Witt O. Eur J Cancer. 2016 Sep;65:91-101.

14) Immunotherapy in atypical teratoid-rhabdoid tumors: Data from a survey of the HGG-Immuno Group. van Gool SW, Holm S, Rachor J, Adamson L, Technau A, Maass E, Frühwald MC, Schlegel PG, Eyrich M. Cytotherapy. 2016 Sep;18(9):1178-86.

15) Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome. Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M. Brain Pathol. 2017 Jul;27(4):411-418.

16) Health-Related Quality of Life in Children and Adolescents with Hereditary Bleeding Disorders and in Children and Adolescents with Stroke: Cross-Sectional Comparison to Siblings and Peers. Neuner B, von Mackensen S, Holzhauer S, Funk S, Klamroth R, Kurnik K, Krümpel A, Halimeh S, Reinke S, Frühwald MC, Nowak-Göttl U. Biomed Res Int. 2016;2016:1579428.

17) Improved 6-year overall survival in AT/RT - results of the registry study Rhabdoid 2007. Bartelheim K, Nemes K, Seeringer A, Kerl K, Buechner J, Boos J, Graf N, Dürken M, Gerss J, Hasselblatt M, Kortmann RD, Teichert von Luettichau I, Nagel I, Nygaard R, Oyen F, Quiroga E, Schlegel PG, Schmid I, Schneppenheim R, Siebert R, Solano-Paez P, Timmermann B, Warmuth-Metz M, Frühwald MC. Cancer Med. 2016 Aug;5(8):1765-1775.

18) Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis. Hasselblatt M, Thomas C, Hovestadt V, Schrimpf D, Johann P, Bens S, Oyen F, Peetz-Dienhart S, Crede Y, Wefers A, Vogel H, Riemenschneider MJ, Antonelli M, Giangaspero F, Bernardo MC, Giannini C, Ud Din N, Perry A, Keyvani K, van Landeghem F, Sumerauer D, Hauser P, Capper D, Korshunov A, Jones DT, Pfister SM, Schneppenheim R, Siebert R, Frühwald MC, Kool M. Acta Neuropathol. 2016 Jul;132(1):149-151.

19) Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. Johann PD, Erkek S, Zapatka M, Kerl K, Buchhalter I, Hovestadt V, Jones DT, Sturm D, Hermann C, Segura Wang M, Korshunov A, Rhyzova M, Gröbner S, Brabetz S, Chavez L, Bens S, Gröschel S, Kratochwil F, Wittmann A, Sieber L, Geörg C, Wolf S, Beck K, Oyen F, Capper D, van Sluis P, Volckmann R, Koster J, Versteeg R, von Deimling A, Milde T, Witt O, Kulozik AE, Ebinger M, Shalaby T, Grotzer M, Sumerauer D, Zamecnik J, Mora J, Jabado N, Taylor MD, Huang A, Aronica E, Bertoni A, Radlwimmer B, Pietsch T, Schüller U, Schneppenheim R, Northcott PA, Korbel JO, Siebert R, Frühwald MC, Lichter P, Eils R, Gajjar A, Hasselblatt M, Pfister SM, Kool M. Cancer Cell. 2016 Mar 14;29(3):379-393.

20) New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DTW, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen SJ, Balasubramanian G, Worst BC, Pajtler KW, Brabetz S, Johann PD, Sahm F, Reimand J, Mackay A, Carvalho DM, Remke M, Phillips JJ, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, Łastowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lötsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley BC, Schniederjan MJ, Santi M, Buccoliero AM, Dahiya S, Kramm CM, von Bueren AO, von Hoff K, Rutkowski S, Herold-Mende C, Frühwald MC, Milde T, Hasselblatt M, Wesseling P, Rößler J, Schüller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins VP, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann MU, Shalaby T, Grotzer M, van Meter T, Monoranu CM, Felsberg J, Reifenberger G, Snuderl M, Forrester LA, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore AS, Taylor MD, Jones C, Jabado N, Karajannis MA, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M. Cell. 2016 Feb 25;164(5):1060-1072.

21) Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG-MDS study group. Cseh AM, Niemeyer CM, Yoshimi A, Catala A, Frühwald MC, Hasle H, van den Heuvel-Eibrink MM, Lauten M, De Moerloose B, Smith OP, Bernig T, Gruhn B, Kulozik AE, Metzler M, Olcay L, Suttorp M, Furlan I, Strahm B, Flotho C. Br J Haematol. 2016 Mar;172(6):930-936.

22) Quantitative analysis of DNA methylation in the promoter region of the methylguanine-O(6) -DNA-methyltransferase gene by COBRA and subsequent native capillary gel electrophoresis. Goedecke S, Mühlisch J, Hempel G, Frühwald MC, Wünsch B. Electrophoresis. 2015 Dec;36(23):2939-2950.

23) Strategies to improve the quality of survival for childhood brain tumour survivors. Tallen G, Resch A, Calaminus G, Wiener A, Leiss U, Pletschko T, Friedrich C, Langer T, Grabow D, Driever PH, Kortmann RD, Timmermann B, Pietsch T, Warmuth-Metz M, Bison B, Thomale UW, Krauss J, Mynarek M, von Hoff K, Ottensmeier H, Frühwald MC, Kramm CM, Temming P, Müller HL, Witt O, Kordes U, Fleischhack G, Gnekow A, Rutkowski S; German Paediatric Brain Tumour Consortium (HIT-Network). Eur J Paediatr Neurol. 2015 Nov;19(6):619-639.

24) Suberoylanilide hydroxamic acid synergistically enhances the antitumor activity of etoposide in Ewing sarcoma cell lines. Unland R, Clemens D, Heinicke U, Potratz JC, Hotfilder M, Fulda S, Wardelmann E, Frühwald MC, Dirksen U. Anticancer Drugs. 2015 Sep;26(8):843-51..

25) Minimal residual disease detection in autologous stem cell grafts from patients with high risk neuroblastoma. van Wezel EM, Stutterheim J, Vree F, Zappeij-Kannegieter L, Decarolis B, Hero B, Berthold F, Schumacher-Kuckelkorn R, Simon T, Fiocco M, Voermans C, van Noesel MM, Caron HN, van der Schoot CE, Tytgat GA; GPOH MRD Study Group. Pediatr Blood Cancer. 2015 Aug;62(8):1368-1373.

26) Specific immunohistochemical pattern of carbonic anhydrase IX is helpful for the diagnosis of CNS hemangioblastoma. Schaller T, Bode M, Berlis A, Frühwald MC, Lichtmannegger I, Endhardt K, Märkl B. Pathol Res Pract. 2015 Jul;211(7):513-520.

27) Effectiveness and Safety of rhIGF-1 Therapy in Children: The European Increlex® Growth Forum Database Experience. Bang P, Polak M, Woelfle J, Houchard A; EU IGFD Registry Study Group. Horm Res Paediatr. 2015;83(5):345-357.

28) Osteosarcoma in patients with Rothmund-Thomson syndrome. Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Frühwald MC, Suttorp M, Simon T, Werner M, Bielack S. Pediatr Hematol Oncol. 2015 Feb;32(1):32-40.

29) Analysis of the antiproliferative effects of 3-deazaneoplanocin A in combination with standard anticancer agents in rhabdoid tumor cell lines. Unland R, Borchardt C, Clemens D, Kool M, Dirksen U, Frühwald MC. Anticancer Drugs. 2015 Mar;26(3):301-311.

30) Malignant rhabdoid tumor of the kidney: significantly improved response to pre-operative treatment intensified with doxorubicin. Furtwängler R, Nourkami-Tutdibi N, Leuschner I, Vokuhl C, Niggli F, Kager L, Ebinger M, Frühwald MC, Graf N; GPOH Nephroblastoma Study Committee. Cancer Genet. 2014 Sep;207(9):434-436.

31) Feasibility of VECOPA, a dose-intensive chemotherapy regimen for children and adolescents with intermediate and advanced stage Hodgkin lymphoma: results of the GPOH-HD-2002/VECOPA pilot trial. Mauz-Körholz C, Hasenclever D, Holzendorf V, Bernstädt M, Jürgens H, Burdach S, Eggert A, Berthold F, Müller HL, Frühwald MC, Klingebiel T, Metzler M, Körholz D. Leuk Lymphoma. 2015 May;56(5):1308-1314.

32) SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R. Acta Neuropathol. 2014 Sep;128(3):453-456.

33) Identifying molecular markers for the sensitive detection of residual atypical teratoid rhabdoid tumor cells. Vu-Han TL, Frühwald MC, Hasselblatt M, Kerl K, Nagel I, Obser T, Oyen F, Siebert R, Schneppenheim R. Cancer Genet. 2014 Sep;207(9):390-397.

34) Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB). Bartelheim K, Sumerauer D, Behrends U, Kodetova D, Kucera F, Leuschner I, Neumayer P, Oyen F, Rübe C, Siebert R, Schneppenheim R, Seeringer A, Vasovcak P, Frühwald MC. Cancer Genet. 2014 Sep;207(9):379-383.

35) Identification of genes involved in the biology of atypical teratoid/rhabdoid tumours using Drosophila melanogaster. Jeibmann A, Eikmeier K, Linge A, Kool M, Koos B, Schulz J, Albrecht S, Bartelheim K, Frühwald MC, Pfister SM, Paulus W, Hasselblatt M. Nat Commun. 2014 Jun 3;5:4005.

36) Kinetics of porphyrin fluorescence accumulation in pediatric brain tumor cells incubated in 5-aminolevulinic acid. Schwake M, Günes D, Köchling M, Brentrup A, Schroeteler J, Hotfilder M, Frühwald MC, Stummer W, Ewelt C. Acta Neurochir (Wien). 2014 Jun;156(6):1077-1084.

37) Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry. Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S, Timmermann B, Kortmann RD, Koscielniak E, Schneppenheim R, Warmuth-Metz M, Gerß J, Siebert R, Graf N, Boos J, Frühwald MC. Klin Padiatr. 2014 May;226(3):143-148.

38) Rare malignant pediatric tumors registered in the German Childhood Cancer Registry 2001-2010. Brecht IB, Bremensdorfer C, Schneider DT, Frühwald MC, Offenmüller S, Mertens R, Vorwerk P, Koscielniak E, Bielack SS, Benesch M, Hero B, Graf N, von Schweinitz D, Kaatsch P. Pediatr Blood Cancer. 2014 Jul;61(7):1202-1209.

39) Arsenic trioxide inhibits tumor cell growth in malignant rhabdoid tumors in vitro and in vivo by targeting overexpressed Gli1. Kerl K, Moreno N, Holsten T, Ahlfeld J, Mertins J, Hotfilder M, Kool M, Bartelheim K, Schleicher S, Handgretinger R, Schüller U, Meisterernst M, Frühwald MC. Int J Cancer. 2014 Aug 15;135(4):989-995.

40) High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB). Benesch M, Bartelheim K, Fleischhack G, Gruhn B, Schlegel PG, Witt O, Stachel KD, Hauch H, Urban C, Quehenberger F, Massimino M, Pietsch T, Hasselblatt M, Giangaspero F, Kordes U, Schneppenheim R, Hauser P, Klingebiel T, Frühwald MC. Bone Marrow Transplant. 2014 Mar;49(3):370-375.

41) Epigenetic repression of the dopamine receptor D4 in pediatric tumors of the central nervous system. Unland R, Kerl K, Schlosser S, Farwick N, Plagemann T, Lechtape B, Clifford SC, Kreth JH, Gerss J, Mühlisch J, Richter GH, Hasselblatt M, Frühwald MC. J Neurooncol. 2014 Jan;116(2):237-249.

42) Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Frühwald MC. Pediatr Blood Cancer. 2014 May;61(5):919-921.

43) The histone deacetylase inhibitor SAHA acts in synergism with fenretinide and doxorubicin to control growth of rhabdoid tumor cells. Kerl K, Ries D, Unland R, Borchert C, Moreno N, Hasselblatt M, Jürgens H, Kool M, Görlich D, Eveslage M, Jung M, Meisterernst M, Frühwald MC. BMC Cancer. 2013 Jun 13;13:286. doi: 10.1186/1471-2407-13-286-

44) Bone involvement in atypical teratoid/rhabdoid tumors of the CNS. Warmuth-Metz M, Bison B, Gerber NU, Pietsch T, Hasselblatt M, Frühwald MC. AJNR Am J Neuroradiol. 2013 Oct;34(10):2039-2042.

45) Somatostatin receptor subtype 2 (sst₂) is a potential prognostic marker and a therapeutic target in medulloblastoma. Remke M, Hering E, Gerber NU, Kool M, Sturm D, Rickert CH, Gerß J, Schulz S, Hielscher T, Hasselblatt M, Jeibmann A, Hans V, Ramaswamy V, Taylor MD, Pietsch T, Rutkowski S, Korshunov A, Monoranu CM, Frühwald MC. Childs Nerv Syst. 2013 Aug;29(8):1253-1262.

46) Systemic treatment of adrenocortical carcinoma in children: data from the German GPOH-MET 97 trial. Redlich A, Boxberger N, Strugala D, Frühwald MC, Leuschner I, Kropf S, Bucsky P, Vorwerk P. Klin Padiatr. 2012 Oct;224(6):366-371.

47) Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Sturm D, Witt H, Hovestadt V, Khuong-Quang DA, Jones DT, Konermann C, Pfaff E, Tönjes M, Sill M, Bender S, Kool M, Zapatka M, Becker N, Zucknick M, Hielscher T, Liu XY, Fontebasso AM, Ryzhova M, Albrecht S, Jacob K, Wolter M, Ebinger M, Schuhmann MU, van Meter T, Frühwald MC, Hauch H, Pekrun A, Radlwimmer B, Niehues T, von Komorowski G, Dürken M, Kulozik AE, Madden J, Donson A, Foreman NK, Drissi R, Fouladi M, Scheurlen W, von Deimling A, Monoranu C, Roggendorf W, Herold-Mende C, Unterberg A, Kramm CM, Felsberg J, Hartmann C, Wiestler B, Wick W, Milde T, Witt O, Lindroth AM, Schwartzentruber J, Faury D, Fleming A, Zakrzewska M, Liberski PP, Zakrzewski K, Hauser P, Garami M, Klekner A, Bognar L, Morrissy S, Cavalli F, Taylor MD, van Sluis P, Koster J, Versteeg R, Volckmann R, Mikkelsen T, Aldape K, Reifenberger G, Collins VP, Majewski J, Korshunov A, Lichter P, Plass C, Jabado N, Pfister SM. Cancer Cell. 2012 Oct 16;22(4):425-437.

48) High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald MC, Siebert R, Paulus W. Genes Chromosomes Cancer. 2013 Feb;52(2):185-190.

49) Nutritional status of children and young adults with Ewing sarcoma or osteosarcoma at diagnosis and during multimodality therapy. Tenardi RD, Frühwald MC, Jürgens H, Hertroijs D, Bauer J. Pediatr Blood Cancer. 2013 Jan;60(1):166

50) Dissecting the genomic complexity underlying medulloblastoma. Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schüller U, Hans V, Graf N, Kim YJ, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann MU, Frühwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo ML, Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P. Nature. 2012 Aug 2;488(7409):100-105.

51) Loss of TP53 expression in immortalized choroid plexus epithelial cells results in increased resistance to anticancer agents. Krzyzankova M, Mertsch S, Koos B, Jeibmann A, Kruse A, Kordes U, Frühwald MC, Wolff JE, Paulus W, Hasselblatt M. J Neurooncol. 2012 Sep;109(3):449-455.

52) Targeted therapeutics in treatment of children and young adults with solid tumors: an expert survey and review of the literature. Grunewald TG, Greulich N, Kontny U, Frühwald MC, Rutkowski S, Kordes U, Scheurlen W, Schmidt W, Stachel D, Metzler M, Mittler U, Graf N, Benesch M, Burdach S. Klin Padiatr. 2012 Apr;224(3):124-131.

53) Primary lung metastases in pediatric malignant non-Wilms renal tumors: data from SIOP 93-01/GPOH and SIOP 2001/GPOH. Warmann SW, Nourkami N, Frühwald MC, Leuschner I, Schenk JP, Fuchs J, Graf N. Klin Padiatr. 2012 Apr;224(3):148-152.

54) Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N. Nature. 2012 Jan 29;482(7384):226-231.

55) Pulmonary involvement in pediatric-onset multisystem Langerhans cell histiocytosis: effect on course and outcome. Ronceray L, Pötschger U, Janka G, Gadner H, Minkov M; German Society for Pediatric Hematology and Oncology, Langerhans Cell Histiocytosis Study Group. J Pediatr. 2012 Jul;161(1):129-33.e1-3.

56) Sensitivity of fine-needle biopsy in detecting pediatric differentiated thyroid carcinoma. Redlich A, Boxberger N, Schmid KW, Frühwald MC, Rohrer T, Vorwerk P. Pediatr Blood Cancer. 2012 Aug;59(2):233-237.

57) Nutritional status of children and young adults with Ewing sarcoma or osteosarcoma at diagnosis and during multimodality therapy. Tenardi RD, Frühwald MC, Jürgens H, Hertroijs D, Bauer J. Pediatr Blood Cancer. 2012 Oct;59(4):621-626.

58) Contribution of PET/CT to prediction of outcome in children and young adults with rhabdomyosarcoma. Baum SH, Frühwald MC, Rahbar K, Wessling J, Schober O, Weckesser M. J Nucl Med. 2011 Oct;52(10):1535-1540.

59) Autologous pluripotent stem cells generated from adult mouse testicular biopsy. Ko K, Wu G, Araúzo-Bravo MJ, Kim J, Francine J, Greber B, Mühlisch J, Joo JY, Sabour D, Frühwald MC, Tapia N, Schöler HR. Stem Cell Rev. 2012 Jun;8(2):435-444.

60) Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N, Emser A, Zwiener I, Schlegel PG, Kuehl J, Frühwald MC, Kortmann RD, Pietsch T, Rutkowski S. Pediatr Blood Cancer. 2011 Dec 1;57(6):978-895.

61) Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W. Am J Surg Pathol. 2011 Jun;35(6):933-935.

62) An association between infantile haemangiomas and erythropoietin treatment in preterm infants. Doege C, Pritsch M, Frühwald MC, Bauer J. Arch Dis Child Fetal Neonatal Ed. 2012 Jan;97(1):F45-9.

63) Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML. Stelljes M, Corbacioglu A, Schlenk RF, Döhner K, Frühwald MC, Rossig C, Ehlert K, Silling G, Müller-Tidow C, Juergens H, Döhner H, Berdel WE, Kienast J, Koschmieder S. Leukemia. 2011 Jul;25(7):1209-1210.

64) Health-related quality of life in children and adolescents with stroke, self-reports, and parent/proxies reports: cross-sectional investigation. Neuner B, von Mackensen S, Krümpel A, Manner D, Friefeld S, Nixdorf S, Frühwald MC, deVeber G, Nowak-Göttl U. Ann Neurol. 2011 Jul;70(1):70-78.

65) Claudin-6 is of limited sensitivity and specificity for the diagnosis of atypical teratoid/rhabdoid tumors. Antonelli M, Hasselblatt M, Haberler C, Di Giannatale A, Garrè ML, Donofrio V, Lauriola L, Ridola V, Arcella A, Frühwald MC, Giangaspero F. Brain Pathol. 2011 Sep;21(5):558-563.

66) The tyrosine kinase c-Abl promotes proliferation and is expressed in atypical teratoid and malignant rhabdoid tumors. Koos B, Jeibmann A, Lünenbürger H, Mertsch S, Nupponen NN, Roselli A, Leuschner I, Paulus W, Frühwald MC, Hasselblatt M. Cancer. 2010 Nov 1;116(21):5075-5081.

67) Therapeutic drug monitoring of methotrexate in cerebrospinal fluid after systemic high-dose infusion in children: can the burden of intrathecal methotrexate be reduced? Niemann A, Mühlisch J, Frühwald MC, Gerss J, Hempel G, Boos J. Ther Drug Monit. 2010 Aug;32(4):467-475.

68) Tissue specific DNA methylation of CpG islands in normal human adult somatic tissues distinguishes neural from non-neural tissues. Ghosh S, Yates AJ, Frühwald MC, Miecznikowski JC, Plass C, Smiraglia D. Epigenetics. 2010 Aug 16;5(6):527-538.

69) Validation of a predictive model for identifying an increased risk for thromboembolism in children with acute lymphoblastic leukemia: results of a multicenter cohort study. Mitchell L, Lambers M, Flege S, Kenet G, Li-Thiao-Te V, Holzhauer S, Bidlingmaier C, Frühwald MC, Heller C, Schmidt W, Pautard B, Nowak-Göttl U. Blood. 2010 Jun 17;115(24):4999-5004.

70) O(6)-methylguanine-DNA methyltransferase (MGMT) promoter methylation is significantly less frequent in ependymal tumours as compared to malignant astrocytic gliomas. Koos B, Peetz-Dienhart S, Riesmeier B, Frühwald MC, Hasselblatt M. Neuropathol Appl Neurobiol. 2010 Jun;36(4):356-358.

71) Systematic analysis of the antiproliferative effects of novel and standard anticancer agents in rhabdoid tumor cell lines. Lünenbürger H, Lanvers-Kaminsky C, Lechtape B, Frühwald MC. Anticancer Drugs. 2010 Jun;21(5):514-522.

72) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Am J Hum Genet. 2010 Feb 12;86(2):279-284.

73) Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald MC, Schneppenheim R, Siebert R, Paulus W. J Neuropathol Exp Neurol. 2009 Dec;68(12):1249-1255.

74) Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R. Genes Chromosomes Cancer. 2010 Feb;49(2):176-181.

75) MGMT as a potential stratification marker in relapsed high-grade glioma of children: the HIT-GBM experience. Schlosser S, Wagner S, Mühlisch J, Hasselblatt M, Gerss J, Wolff JE, Frühwald MC. Pediatr Blood Cancer. 2010 Feb;54(2):228-237

1) Emerging therapeutic targets for the treatment of malignant rhabdoid tumors. Nemes K, Frühwald MC. Expert Opin Ther Targets. 2018 Mar 12. doi: 10.1080/14728222.2018.1451839. [Epub ahead of print]

2) Rhabdoid Tumor Predisposition Syndrome. Nemes K, Bens S, Bourdeaut F, Hasselblatt M, Kool M, Johann P, Kordes U, Schneppenheim R, Siebert R, Frühwald MC. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2017 Dec 7.

3) SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrom. Bens S, Kehrer-Sawatzki H, Hasselblatt M, Frühwald MC and Siebert R. medgen 2017;29:296-305

4) Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN. Neuro Oncol. 2016 Jun;18(6):764-778.

5) Rhabdoid tumors: integrating biological insights with clinical success: a report from the SMARCB1 and Rhabdoid Tumor Symposium, Paris, December 12-14, 2013. Bourdeaut F, Chi SN, Frühwald MC. Cancer Genet. 2014 Sep;207(9):346-351.

6) Rhabdoid tumors: clinical approaches and molecular targets for innovative therapy. Kerl K, Holsten T, Frühwald MC. Pediatr Hematol Oncol. 2013 Oct;30(7):587-604. Erratum in: Pediatr Hematol Oncol. 2014 Sep;31(6):581.

7) Notfallsituationen in der Kinder- und Jugendonkologie. Frühwald MC. Onkologie 2012;6:344-352

8) Harnwegsinfekte im Kindes- und Jugendalter – Altbekanntes, neue Leitlinien und zukünftige Herausforderungen. Walden U und Frühwald MC. Uro-News 2012;16:2-8

9) Important aspects of nutrition in children with cancer. Bauer J, Jürgens H, Frühwald MC. Adv Nutr. 2011 Mar;2(2):67-77.

10) Tumors of the central nervous system in children and adolescents. Frühwald MC, Rutkowski S. Dtsch Arztebl Int. 2011 Jun;108(22):390-397.

11) Maligne endokrine Tumoren im Kinder- und Jugendalter. Redlich A, Frühwald MC, Dralle H., v. Schweinitz D., Reiners C. und Vorwerk P. Tumordign u Ther 2010 August;31:210-213

1) Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Hölsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Brück W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hänggi D, Hans V, Rozsnoki S, Hansford JR, Kohlhof P, Kristensen BW, Lechner M, Lopes B, Mawrin C, Ketter R, Kulozik A, Khatib Z, Heppner F, Koch A, Jouvet A, Keohane C, Mühleisen H, Mueller W, Pohl U, Prinz M, Benner A, Zapatka M, Gottardo NG, Driever PH, Kramm CM, Müller HL, Rutkowski S, von Hoff K, Frühwald MC, Gnekow A, Fleischhack G, Tippelt S, Calaminus G, Monoranu CM, Perry A, Jones C, Jacques TS, Radlwimmer B, Gessi M, Pietsch T, Schramm J, Schackert G, Westphal M, Reifenberger G, Wesseling P, Weller M, Collins VP, Blümcke I, Bendszus M, Debus J, Huang A, Jabado N, Northcott PA, Paulus W, Gajjar A, Robinson GW, Taylor MD, Jaunmuktane Z, Ryzhova M, Platten M, Unterberg A, Wick W, Karajannis MA, Mittelbronn M, Acker T, Hartmann C, Aldape K, Schüller U, Buslei R, Lichter P, Kool M, Herold-Mende C, Ellison DW, Hasselblatt M, Snuderl M, Brandner S, Korshunov A, von Deimling A, Pfister SM. DNA methylation-based classification of central nervous system tumours. Nature. 2018 Mar 22;555(7697):469-474. doi: 10.1038/nature26000. Epub 2018 Mar 14.

2) Ariane Kaufmann, Nicolas U. Gerber, Daniela Kandels, Amedeo A. Azizi, Rene Schmidt, Monika Warmuth-Metz, Torsten Pietsch, Rolf-Dieter Kortmann, Astrid Gnekow, Michael A. Grotzer. Management of Primary Tectal Plate Low-Grade Glioma (LGG) in Pediatric Patients: Results of the Multicentre Treatment Study SIOP-LGG 2004. Neuropediatrics 2018 - Decision on Manuscript ID neuped-01-2018-1854-OA.R1 (Manuscript accepted)

3) Gnekow AK, Walker DA, Kandels D, Picton S, Giorgio Perilongo, Grill J, Stokland T, Sandstrom PE, Warmuth-Metz M, Pietsch T, Giangaspero F, Schmidt R, Faldum A, Kilmartin D, De Paoli A, De Salvo GL; of the Low Grade Glioma Consortium and the participating centers. A European randomised controlled trial of the addition of etoposide to standard vincristine and carboplatin induction as part of an 18-month treatment programme for childhood (≤16 years) low grade glioma – A final report. Eur J Cancer 2017; 81: 206–25

4) Storck S, Kennedy AL, Marcus KJ, Teot L, Vaughn J, Gnekow AK, Märkl B, Leuschner I, DuBois SG, French CA, Frühwald MC. Pediatric NUT-midline carcinoma: Therapeutic success employing a sarcoma based multimodal approach. Pediatr Hematol Oncol. 2017 May;34(4):231-237. doi: 10.1080/08880018.2017.1363839. Epub 2017 Oct 17.

5) Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, Debatin KM, Deubzer H, Dirksen U, Eckert C, Eggert A, Erlacher M, Fleischhack G, Frühwald MC, Gnekow A, Goehring G, Graf N, Hanenberg H, Hauer J, Hero B, Hettmer S, von Hoff K, Horstmann M, Hoyer J, Illig T, Kaatsch P, Kappler R, Kerl K, Klingebiel T, Kontny U, Kordes U, Körholz D, Koscielniak E, Kramm CM, Kuhlen M, Kulozik AE, Lamottke B, Leuschner I, Lohmann DR, Meinhardt A, Metzler M, Meyer LH, Moser O, Nathrath M, Niemeyer CM, Nustede R, Pajtler KW, Paret C, Rasche M, Reinhardt D, Rieß O, Russo A, Rutkowski S, Schlegelberger B, Schneider D, Schneppenheim R, Schrappe M, Schroeder C, von Schweinitz D, Simon T, Sparber-Sauer M, Spix C, Stanulla M, Steinemann D, Strahm B, Temming P, Thomay K, von Bueren AO, Vorwerk P, Witt O, Wlodarski M, Wössmann W, Zenker M, Zimmermann S, Pfister SM, Kratz CP. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet A. 2017 Apr;173(4):1017-1037. doi: 10.1002/ajmg.a.38142. Epub 2017 Feb 7. Review.

6) Gessi M, Engels AC, Lambert S, Rothämel T, von Hornstein S, Collins VP, Denkhaus D, Gnekow A, Pietsch T. Molecular characterization of disseminated pilocytic astrocytomas. Neuropathol Appl Neurobiol 2016; 42: 273–8

7) Gessi M, Dörner E, Dreschmann V, Antonelli M, Waha A, Giangaspero F, Gnekow A, Pietsch T. Intramedullary gangliogliomas: histopathologic and molecular features of 25 cases. Hum Pathol 2016; 49: 107–13

8) Boesten T, Gerber NU, Kandels D, Azizi AA, Schmidt R, Warmuth-Metz M, Pietsch T, Kortmann RD, Gnekow A, Grotzer MA. Management of primary thalamic low-grade glioma in pediatric patients: Results of the multicenter treatment studies HIT-LGG 1996 and SIOP-LGG 2004. Neuro-Oncology Practice 2016; 0, 1–10

9) Pajtler KW, Tippelt S, Siegler N, Reichling S, Zimmermann M, Mikasch R, Bode U, Gnekow A, Pietsch T, Benesch M, Rutkowski S, Fleischhack G. Intraventricular etoposide safety and toxicity profile in children and young adults with refractory or recurrent malignant brain tumors. J Neurooncol. 2016 Jul;128(3):463-71. doi: 10.1007/s11060-016-2133-x. Epub 2016 May 4.

1) Yield of a Public Health Screening of Children for Islet Autoantibodies in Bavaria, Germany.
Ziegler AG, Kick K, Bonifacio E, Haupt F, Hippich M, Dunstheimer D, Lang M, Laub O, Warncke K, Lange K, Assfalg R, Jolink M, Winkler C, Achenbach P; Fr1da Study Group.
JAMA. 2020 Jan 28;323(4):339-351. doi: 10.1001/jama.2019.21565.

2) Three-Variate Longitudinal Patterns of Metabolic Control, Body Mass Index, and Insulin Dose during Puberty in a Type 1 Diabetes Cohort: A Group-Based Multitrajectory Analysis.
Schwandt A, Kuss O, Dunstheimer D, Karges B, Kapellen T, Meissner T, Witsch M, Flury M, Straubinger S, Holl RW; Diabetes-Patienten-Verlaufsdokumentation (DPV) Initiative.
J Pediatr. 2020 Jan 14. pii: S0022-3476(19)31520-3. doi: 10.1016/j.jpeds.2019.11.012. [Epub ahead of print]

3) Revisiting the genotype-phenotype correlation in children with medullary thyroid carcinoma: A report from the GPOH-MET registry.
Kuhlen M, Frühwald MC, Dunstheimer DPA, Vorwerk P, Redlich A.
Pediatr Blood Cancer. 2020 Jan 11:e28171. doi: 10.1002/pbc.28171. [Epub ahead of print]

4) Guidance to Bone Morbidity in Children and Adolescents Undergoing Allogeneic Hematopoietic Stem Cell Transplantation.
Kuhlen M, Kunstreich M, Niinimäki R, Dunstheimer D, Lawitschka A, Bardi E, Willasch A, Bader P, Högler W, Peters C, Balduzzi A.
Biol Blood Marrow Transplant. 2020 Feb;26(2):e27-e37. doi: 10.1016/j.bbmt.2019.10.007. Epub 2019 Oct 13. Review.

5) Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone Treatment.
Quitmann J, Bloemeke J, Silva N, Bullinger M, Witt S, Akkurt I, Dunstheimer D, Vogel C, Böttcher V, Kuhnle Krahl U, Bettendorf M, Schönau E, Fricke-Otto S, Keller A, Mohnike K, Dörr HG.
Front Pediatr. 2019 Apr 29;7:164. doi: 10.3389/fped.2019.00164. eCollection 2019.

6) Biological Significance of Anti-GH Antibodies in Children Treated with rhGH.
Binder G, Heidenreich L, Schnabel D, Dunstheimer D, Oeverink R, Kiess W, Körner A, Kratzsch J.
Horm Res Paediatr. 2019;91(1):17-24. doi: 10.1159/000497409. Epub 2019 Apr 4.

7) Recruiting young pre-symptomatic children for a clinical trial in type 1 diabetes: Insights from the Fr1da insulin intervention study.
Kick K, Assfalg R, Aydin S, Bechtold-Dalla Pozza S, Böcker D, Braig S, Bunk M, Dunstheimer D, Durmashkina A, Ermer U, Gavazzeni A, Gerstl EM, Heinrich M, Herbst M, Kriesen Y, Kuhnle-Krahl U, Müller H, Nellen-Hellmuth N, Ockert C, Ramminger C, Sindichakis M, Tretter S, Warncke K, Achenbach P, Ziegler AG, Hoffmann VS.
Contemp Clin Trials Commun. 2018 Aug 15;11:170-173. doi: 10.1016/j.conctc.2018.08.004. eCollection 2018 Sep.

8) Fasting hypoglycemia is associated with disease progression in presymptomatic early stage type 1 diabetes.
Heinrich M, Maison N, Achenbach P, Assfalg R, Braig S, Böcker D, Dunstheimer D, Ermer U, Gavazzeni A, Gerstl EM, Hummel S, Kick K, Müller H, Nellen-Hellmuth N, Ockert C, Sindichakis M, Tretter S, Warncke K, Ziegler AG, Beyerlein A; Fr1da-Study group.
Pediatr Diabetes. 2018 Nov;19(7):1238-1242. doi: 10.1111/pedi.12739. Epub 2018 Sep 3.

9) Sleep and glycemic control in adolescents with type 1 diabetes.
von Schnurbein J, Boettcher C, Brandt S, Karges B, Dunstheimer D, Galler A, Denzer C, Denzer F, Vollbach H, Wabitsch M, Roenneberg T, Vetter C.
Pediatr Diabetes. 2018 Feb;19(1):143-149. doi: 10.1111/pedi.12538. Epub 2017 Jun 14.

10) Real-life experience of patients starting insulin degludec. A multicenter analysis of 1064 subjects from the German/Austrian DPV registry.
Bohn B, Zimmermann A, Wagner C, Merger S, Dunstheimer D, Kopp F, Gollisch K, Zindel V, Holl RW; DPV Initiative.
Diabetes Res Clin Pract. 2017 Jul;129:52-58. doi: 10.1016/j.diabres.2017.03.031. Epub 2017 May 4.

11) Longitudinal Trajectories of Metabolic Control From Childhood to Young Adulthood in Type 1 Diabetes From a Large German/Austrian Registry: A Group-Based Modeling Approach.
Schwandt A, Hermann JM, Rosenbauer J, Boettcher C, Dunstheimer D, Grulich-Henn J, Kuss O, Rami-Merhar B, Vogel C, Holl RW; DPV Initiative.
Diabetes Care. 2017 Mar;40(3):309-316. doi: 10.2337/dc16-1625. Epub 2016 Dec 22.

12) Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM.
J Clin Endocrinol Metab. 2016 Nov;101(11):4468-4477. Epub 2016 Sep 1.

13) Testicular growth and spermatogenesis: new goals for pubertal hormone replacement in boys with hypogonadotropic hypogonadism? -a multicentre prospective study of hCG/rFSH treatment outcomes during adolescence.
Rohayem J, Hauffa BP, Zacharin M, Kliesch S, Zitzmann M; “German Adolescent Hypogonadotropic Hypogonadism Study Group”.
Clin Endocrinol (Oxf). 2017 Jan;86(1):75-87. doi: 10.1111/cen.13164. Epub 2016 Sep 7.

14) Capillary blood islet autoantibody screening for identifying pre-type 1 diabetes in the general population: design and initial results of the Fr1da study.
Raab J, Haupt F, Scholz M, Matzke C, Warncke K, Lange K, Assfalg R, Weininger K, Wittich S, Löbner S, Beyerlein A, Nennstiel-Ratzel U, Lang M, Laub O, Dunstheimer D, Bonifacio E, Achenbach P, Winkler C, Ziegler AG; Fr1da Study Group.
BMJ Open. 2016 May 18;6(5):e011144. doi: 10.1136/bmjopen-2016-011144.

15) Does diabetes appear in distinct phenotypes in young people? Results of the diabetes mellitus incidence Cohort Registry (DiMelli).
Warncke K, Krasmann M, Puff R, Dunstheimer D, Ziegler AG, Beyerlein A.
PLoS One. 2013 Sep 4;8(9):e74339. doi: 10.1371/journal.pone.0074339. eCollection 2013.

16) Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.
Müller E, Dunstheimer D, Klammt J, Friebe D, Kiess W, Kratzsch J, Kruis T, Laue S, Pfäffle R, Wallborn T, Heidemann PH.
PLoS One. 2012;7(5):e38220. doi: 10.1371/journal.pone.0038220. Epub 2012 May 31.

17) [Initial education for parents of children with diabetes: effort and outcomes in children and parents].
Lange K, Kleine T, Danne T; AG Diabetesschulung für Eltern.
Dtsch Med Wochenschr. 2011 May;136(21):1106-10. doi: 10.1055/s-0031-1280518. Epub 2011 May 17. German.

18) Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U.
Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x.

19) Effect of combined oral proteases and flavonoid treatment in subjects at risk of Type 1 diabetes.
Kempf K, Manzo G, Hanifi-Moghaddam P, Kappler S, Seissler J, Jaeger C, Boehm B, Roden M, Kolb H, Martin S, Schloot NC; PRODIAB Study Group.
Diabet Med. 2009 Dec;26(12):1309-10. doi: 10.1111/j.1464-5491.2009.02879.x. No abstract available.

20) Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R.
J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. doi: 10.1016/j.jaci.2008.09.027. Epub 2008 Oct 25.

1) Storck S, Kennedy AL, Marcus KJ, Teot L, Vaughn J, Gnekow AK, Märkl B, Leuschner I, DuBois SG, French CA, Frühwald MC: Pediatric NUT-midline carcinoma: Therapeutic success employing a sarcoma based multimodal approach - Pediatr Hematol Oncol. 2017 May;34(4):231-237. doi: 10.1080/08880018.2017.1363839. Epub 2017 Oct 17
 

1) Baumann M, Grams  A, Djurdjevic T, Wendel EM, Lechner C, Behring B, Blaschek A, Diepold K, Eisenkölbl A, Fluss  J, Karenfort M, Koch  J, Konuşkan B, Leiz  S, Merkenschlager A, Pohl  D, Schimmel M, Thiels C, Kornek B, Schanda K, Reindl M, Rostásy K.: MRI of the first  event  in pediatric acquired demyelinating syndromes with  antibodies to myelin oligodendrocyte glycoprotein. J Neurol. 2018

Apr;265(4):845-855. doi:  10.1007/s00415-018-8781-3. Epub  2018  Feb 8. PubMed PMID: 29423614

2) Schimmel M, Frühwald MC, Bien  CG. Limbic encephalitis with  LGI1 antibodies in a 14-year-old boy.  Eur J Paediatr Neurol. 2018  Jan;22(1):190-193. doi: 10.1016/j.ejpn.2017.08.004. Epub  2017  Sep 2. PubMed PMID:  28919330.

3) Hennes EM, Baumann M, Schanda K, Anlar  B, Bajer-Kornek B, Blaschek A, Brantner-Inthaler S, Diepold K, Eisenkölbl A, Gotwald T, KuchukhidzeG, Gruber-Sedlmayr U, Häusler M, Höftberger R, Karenfort M, Klein  A, Koch  J, Kraus V, Lechner C, Leiz  S, Leypoldt F, Mader  S, Marquard K, Poggenburg I, Pohl  D, Pritsch M, Raucherzauner M, Schimmel M, Thiels C, Tibussek D, Vieker S, Zeches C, Berger T, Reindl M, Rostásy K; BIOMARKER Study  Group. Prognostic relevance of MOG antibodies in children with  an acquired demyelinating syndrome. Neurology. 2017

Aug 29;89(9):900-908. doi:  10.1212/WNL.0000000000004312. Epub  2017 Aug 2. PubMed PMID:  28768844.

4) Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou  Jamra  R, Baethmann M, Bast  T, Büttel HM, Cohen  JS, Conover E, Courage C, Eger  A, Fatemi A, Grebe  TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle  D, Höft  K, Karch  S, Kluger G, Korenke GC, Lemke  JR, Lutz  RE, Patzer S, Prehl  I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll  B, Malzahn D, Zirn  B, Brockmann K. FOXG1  syndrome: genotype-phenotype association in 83 patients with  FOXG1  variants. Genet  Med.  2018  Jan; 20(1):98-108. doi:  10.1038/gim.2017.75. Epub  2017  Jun 29. PubMed PMID:  28661489.

5) Haberlandt E, Ensslen M, Gruber-Sedlmayr U, Plecko B, Brunner- Krainz M, Schimmel M, Schubert-Bast S, Neirich U, Philippi H, Kurleman G, Tardieu M, Wohlrab G, Borggraefe I, Rostásy K. Epileptic phenotypes, electroclinical features and clinical characteristics in 17 children with  anti-NMDAR encephalitis. Eur J Paediatr Neurol. 2017  May;21(3):457-464. doi: 10.1016/j.ejpn.2016.11.016. Epub  2016  Dec 5. PubMed PMID:  28017557.

6) Heussinger N, Kontopantelis E, Gburek-Augustat J, Jenke  A, Vollrath G, Korinthenberg R, Hofstetter P, Meyer  S, Brecht I, Kornek B, Herkenrath P, Schimmel M, Wenner K, Häusler M, Lutz  S, Karenfort M, Blaschek A, Smitka M, Karch S, Piepkorn M, Rostasy K, Lücke  T, Weber  P, Trollmann R, Klepper J, Häussler M, Hofmann R, Weissert R, Merkenschlager A, Buttmann M; for GRACE-MS (German-speaking Research Alliance for ChildrEn with  Multiple Sclerosis). Oligoclonal bands  predict multiple sclerosis in children with  optic neuritis. Ann Neurol. 2015  Jun;77(6):1076-82. doi:  10.1002/ana.24409. Epub  2015 May 11. PubMed PMID:  25820181.

7) Huemer M, Mulder-Bleile R, Burda  P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl  W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz  F, Tsuji  M, Vilaseca MA, von Kleist- Retzow JC, Walker V, Zeman  J, Baumgartner MR, Fowler B. Clinical pattern, mutations and in vitro residual activity in 33 patients with  severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab  Dis.  2016 Jan;39(1):115-24. doi:  10.1007/s10545-015-9860-6. Epub  2015  May 30. PubMed PMID:26025547.

8) Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza  T, Aiello C, Zanni  G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein  A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber  S, von Moers  A, Wente  S, Ziegler A, Zonta  A, Bertini E, Boltshauser E, Valente EM. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with  cysts  (Poretti- Boltshausersyndrome). Eur J Hum Genet. 2016  Aug;24(9):1262-7. doi:  10.1038/ejhg.2016.19. Epub  2016  Mar 2. PubMed PMID:  26932191; PubMed Central PMCID: PMC4913877.

9) Lechner C, Baumann M, Hennes EM, Schanda K, Marquard K, Karenfort M, Leiz  S, Pohl  D, Venkateswaran S, Pritsch M, Koch  J, Schimmel M, Häusler M, Klein  A, Blaschek A, Thiels C, Lücke  T, Gruber-Sedlmayr U, Kornek B, Hahn  A, Leypoldt F, Sandrieser T, Gallwitz H, Stoffels J, Korenke C, Reindl M, Rostásy K. Antibodies to MOG and AQP4  in children with  neuromyelitis optica and limited forms  of the disease. J Neurol Neurosurg Psychiatry. 2016  Aug;87(8):897-905. doi: 10.1136/jnnp-2015-311743. Epub  2015  Dec 8. PubMed PMID:  26645082.

10) Poretti A, Capone A, Hackenberg A, Kraegeloh-Mann I, Kurlemann G, Laube  G, Pietz  J, Schimmel M, Schwindt W, Scheer I, Boltshauser E. Cerebellar Bottom-of-Fissure Dysplasia-a Novel  Cerebellar Gray  Matter Neuroimaging Pattern. Cerebellum. 2016  Dec;15(6):705-709. PubMed PMID:  26525217.

11) Kraus  V, Srivastava R, Kalluri SR, Seidel U, Schuelke M, Schimmel M, Rostasy K, Leiz  S, Hosie  S, Grummel V, Hemmer B. Potassium channel KIR4.1- specific antibodies in children with  acquired demyelinating CNS disease. Neurology. 2014 Feb 11;82(6):470-3. doi:  10.1212/WNL.0000000000000097. Epub  2014  Jan 10. PubMed PMID:  24415573.

12) Rostasy K, Mader  S, Schanda K, Huppke P, Gärtner J, Kraus  V, Karenfort M, Tibussek D, Blaschek A, Bajer-Kornek B, Leitz  S, Schimmel M, Di Pauli  F, Berger T, Reindl M. Anti-myelin oligodendrocyte glycoprotein antibodies in pediatric patients with  optic  neuritis. Arch  Neurol. 2012  Jun;69(6):752-6. doi: 10.1001/archneurol.2011.2956. PubMed PMID: 22371853.

13) Karall D, Haberlandt E, Schimmel M, Schocke M, Gautsch K, Albrecht U, Baumgartner Sigl  S, Scholl-Bürgi S. Cytotoxic not vasogenic edema  is the cause for stroke-like episodes in propionic acidemia. Neuropediatrics. 2011 Oct;42(5):210. doi:  10.1055/s-0031-1287772. Epub  2011  Sep 29. PubMed PMID: 21959745.

14) Schimmel M, Bien  CG, Vincent A, Schenk W, Penzien J. Successful treatment of anti-N-methyl-D-aspartate receptor encephalitis presenting with catatonia. Arch Dis Child. 2009  Apr;94(4):314-6. doi:  10.1136/adc.2008.149021. PubMed PMID: 19307202.

Externe Publikationsdatenbank

• Papillomatosis Confluens et reticularis (Morbus Gougerot-Carteaud) – a retrospective Study of 25 patients.
  Weins AB, Schnopp C. J Dtsch Dermatol Ges. 2021. doi: 10.1111/ddg.14364. Online ahead of print. » Link
• Differenzialdiagnose häufiger Nagelveränderungen im Kindesalter.
  Gresset-Kaliebe K, Garzorz-Stark B, Schnopp C & Weins AB. Hautarzt 2021.72:225–231 » Link
• Nichtinvasive bildgebende Diagnostik bei Hauterkrankungen im Kindesalter.
  Schuh S, Weins AB & Welzel J. Hautarzt 2021. 72, pages 199–206 » Link
• Kinderdermatologie highlighted
  Weins AB et al. Bayerisches Ärzteblatt. 2021 76(1):8-15 » Link
• Successful targeted cytokine blockade in a case of aseptic abscess syndrome.
  Weins AB, Scharffetter-Kochanek K, Weiss T, Crisan D, Hehl N, Weiss J, Sindrilaru A. J Dtsch Dermatol Ges. 2020 Jul 12. doi: 10.1111/ddg.14147. Online ahead of print. PMID: 32656936 » Link
• Global Atlas of Skin Atlas – Chapter 232 ‘Wet wrap therapy’
  Weins AB, Schnopp C. European Academy of Allergy and Clinical Immunology 2020: p232-233. » Link
• Febrile ulceronecrotic Mucha-Habermann disease mimicking Kawasaki disease.
  Weins AB, Theiler M, Bogatu B, Kerl K, Pleimes M, Pachlopnik-Schmid J, Weibel L. J Dtsch Dermatol Ges. 2020 Feb;18(2):140-142. » Link
• Successful treatment of recalcitrant dyshidrotic eczema with dupilumab in a child.
  Weins AB, Biedermann T, Eyerich K, Moeckel S, Schnopp C. J Dtsch Dermatol Ges. 2019 Nov;17(11):1165-1167. doi: 10.1111/ddg.13929. Epub 2019 Oct 14. PMID: 31612565 » Link
• Anaphylaxis – how to act fast and sustainable.
  Ring J, Weins A, Grosber M, Brockow K. MMW Fortschr Med. 2019 Sep;161(15):54-65. » Link
• Differential diagnosis of exanthematous skin eruptions.
  Schnopp C, Weins A. MMW Fortschr Med. 2019 May;161(8):36-42. » Link
• Diagnostics of alpha-gal syndrome : Current standards, pitfalls and perspectives.
  Weins AB, Eberlein B, Biedermann T. Hautarzt. 2019 Jan;70(1):36-43. doi: 10.1007/s00105-018-4288-1. » Link
• 10-month-old female with anogenital redness: Preparation for the medical specialist examination: Part 10.
  Weins AB, Schnopp C. Hautarzt. 2018 (Suppl 2):118-122. doi: 10.1007/s00105-018-4273-8 » Link
• Delayed bullous pressure urticaria: the puzzling role of eosinophils.
  Weins AB, Mourantchanian V, Eyerich S, Biedermann T, Brockow K. J Dtsch Dermatol Ges. 2018 Oct;16(10):1253-1255. » Link
• Painful blisters and erosions after gardening.
  Boehmer DF, Uretzki M, Weins AB, Eberlein B, Biedermann T, Darsow U. J Dtsch Dermatol Ges. 2018 Sep;16(9):1159-1161. » Link
• Skin Changes Revealing a Disorder of Lipid Metabolism.
  Weins AB, Biedermann T, Brockow K. Dtsch Arztebl Int. 2018 Mar 30;115(13):231. » Link
• Symmetric reticular scarring of the cheeks.
  Weins AB, Schnopp C. Br J Dermatol. 2018 Mar;178(3):e229. doi: 10.1111/bjd.16244. » Link
• Is neutrophilic desquamative erythroderma a form of acute generalized exanthematous pustulosis?
  Weins AB, Scharffetter-Kochanek K, Weiss T, Brockow K, Biedermann T, Psotta-Schachtner C, Mockenhaupt M, Weiss JM. » Link
• Refractory edema and erythema of the abdominal wall.
  Weins AB, Schneider M, Gethöffer K, Weiss T, Scharffetter-Kochanek K, Weiss JM. J Dtsch Dermatol Ges. 2016 Oct;14(10):1044-1047. » Link
• Wells syndrome.
  Weins AB, Biedermann T, Weiss T, Weiss JM. J Dtsch Dermatol Ges. 2016 Oct;14(10):989-993. » Link