Prof.Dr. ID: 63353
Reinhard Schneppenheim
Publications
- 2022
Structure and dynamics of the von Willebrand Factor C6 domain
Chen, P-C., Kutzki, F., Mojzisch, A., Simon, B., Xu, E-R., Aponte-Santamaría, C., Horny, K., Jeffries, C., Schneppenheim, R., Wilmanns, M., Brehm, M. A., Gräter, F. & Hennig, J., 12.2022, In: J STRUCT BIOL. 214, 4, 107923.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Gain-of-function variant p.Pro2555Arg of von Willebrand factor increases aggregate size through altering stem dynamics
Huck, V., Chen, P-C., Xu, E-R., Tischer, A., Klemm, U., Aponte-Santamaría, C., Mess, C., Obser, T., Kutzki, F., König, G., Denis, C., Gräter, F., Wilmanns, M., Auton, M., Schneider, S. W., Schneppenheim, R., Hennig, J. & Brehm, M. A., 02.2022, In: THROMB HAEMOSTASIS. 122, 2, p. 226-239 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2021
Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6
Kordes, U., Mautner, V-F., Oyen, F., Hagel, C., Hartmann, C., Heuser, M., Frühwald, M., Hasselblatt, M., Oehl-Huber, K., Siebert, R., Schneppenheim, R. & Schüller, U., 10.2021, In: PEDIATR BLOOD CANCER. 68, 10, p. e29185Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS
Baronciani, L., Peake, I., Schneppenheim, R., Goodeve, A., Ahmadinejad, M., Badiee, Z., Baghaipour, M-R., Benitez, O., Bodó, I., Budde, U., Cairo, A., Castaman, G., Eshghi, P., Goudemand, J., Hassenpflug, W., Hoorfar, H., Karimi, M., Keikhaei, B., Lassila, R., Leebeek, F. W. G., Lopez Fernandez, M. F., Mannucci, P. M., Marino, R., Nikšić, N., Oyen, F., Santoro, C., Tiede, A., Toogeh, G., Tosetto, A., Trossaert, M., Zetterberg, E. M. K., Eikenboom, J., Federici, A. B. & Peyvandi, F., 10.08.2021, In: BLOOD ADV. 5, 15, p. 2987-3001 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study
Springer, A., Schleberger, R., Oyen, F., Hoffmann, B. A., Willems, S., Meyer, C., Langer, F., Schnabel, R. B., Kirchhof, P., Schneppenheim, R. & Lemoine, M. D., 30.06.2021, In: CLIN APPL THROMB-HEM. 27, p. 10760296211021171Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6
Kordes, U., Mautner, V., Oyen, F., Hagel, C., Hartmann, C., Heuser, M., Frühwald, M., Hasselblatt, M., Oehl-Huber, K., Siebert, R., Schneppenheim, R. & Schüller, U., 02.2021Research output: Other contribution › Other › Research
Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK)
Nemes, K., Bens, S., Kachanov, D., Teleshova, M., Hauser, P., Simon, T., Tippelt, S., Woessmann, W., Beck, O., Flotho, C., Grigull, L., Driever, P. H., Schlegel, P-G., Khurana, C., Hering, K., Kolb, R., Leipold, A., Abbink, F., Gil-Da-Costa, M. J., Benesch, M., Kerl, K., Lowis, S., Marques, C. H., Graf, N., Nysom, K., Vokuhl, C., Melchior, P., Kröncke, T., Schneppenheim, R., Kordes, U., Gerss, J., Siebert, R., Furtwängler, R. & Frühwald, M. C., 01.2021, In: EUR J CANCER. 142, p. 112-122 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
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
Platelet adhesion and aggregate formation controlled by immobilised and soluble VWF
Schneider, M. F., Fallah, M. A., Mess, C., Obser, T., Schneppenheim, R., Alexander-Katz, A., Schneider, S. W. & Huck, V., 11.09.2020, In: BMC MOL CELL BIOL. 21, 1, p. 64Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: Results from 3WINTERS-IPS, an international and collaborative cross-sectional study
Tosetto, A., Badiee, Z., Baghaipour, M-R., Baronciani, L., Battle, J., Berntorp, E., Bodó, I., Budde, U., Castaman, G., Eikenboom, J. C. J., Eshghi, P., Ettorre, C., Goodeve, A., Goudemand, J., Hay, C. R. M., Hoorfar, H., Karimi, M., Keikhaei, B., Lassila, R., Leebeek, F. W. G., Lopez Fernandez, M. F., Mannucci, P. M., Mazzucconi, M. G., Morfini, M., Oldenburg, J., Peake, I., Parra Lòpez, R., Peyvandi, F., Schneppenheim, R., Tiede, A., Toogeh, G., Trossaert, M., Zekavat, O., Zetterberg, E. M. K. & Federici, A. B., 09.2020, In: J THROMB HAEMOST. 18, 9, p. 2145-2154 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Age and DNA-methylation subgroup as potential independent risk factors for treatment stratification in children with Atypical Teratoid/Rhabdoid Tumors (ATRT)
Frühwald, M. C., Hasselblatt, M., Nemes, K., Bens, S., Steinbügl, M., Johann, P. D., Kerl, K., Hauser, P., Quiroga, E., Solano-Paez, P., Biassoni, V., Gil-da-Costa, M. J., Perek-Polnik, M., van de Wetering, M., Sumerauer, D., Pears, J., Stabell, N., Holm, S., Hengartner, H., Gerber, N. U., Grotzer, M., Boos, J., Ebinger, M., Tippelt, S., Paulus, W., Furtwängler, R., Hernáiz-Driever, P., Reinhard, H., Rutkowski, S., Schlegel, P-G., Schmid, I., Kortmann, R-D., Timmermann, B., Warmuth-Metz, M., Kordes, U., Gerss, J., Nysom, K., Schneppenheim, R., Siebert, R., Kool, M. & Graf, N., 07.07.2020, In: NEURO-ONCOLOGY. 22, 7, p. 1006–1017 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease
Tischer, A., Brehm, M. A., Machha, V. R., Moon-Tasson, L., Benson, L. M., Nelton, K. J., Leger, R. R., Obser, T., Martinez-Vargas, M., Whitten, S. T., Chen, D., Pruthi, R. K., Bergen, H. R., Cruz, M. A., Schneppenheim, R. & Auton, M., 17.01.2020, In: J MOL BIOL. 432, 2, p. 305-323 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort
Benesch, M., Nemes, K., Neumayer, P., Hasselblatt, M., Timmermann, B., Bison, B., Ebetsberger-Dachs, G., Bourdeaut, F., Dufour, C., Biassoni, V., Morales La Madrid, A., Entz-Werle, N., Laithier, V., Quehenberger, F., Weis, S., Sumerauer, D., Siebert, R., Bens, S., Schneppenheim, R., Kool, M., Modena, P., Fouyssac, F. & C Frühwald, M., 01.2020, In: PEDIATR BLOOD CANCER. 67, 1, p. e28022Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Letzer, A., Lehmann, K., Mess, C., König, G., Obser, T., Peine, S., Schneppenheim, S., Budde, U., Schneider, S. W., Schneppenheim, R. & Brehm, M. A., 2020, In: PLOS ONE. 15, 5, p. e0232637Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
van Dorland, H. A., Taleghani, M. M., Sakai, K., Friedman, K. D., George, J. N., Hrachovinova, I., Knöbl, P. N., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Bütikofer, L., Largiadèr, C. R., Cermakova, Z., Kokame, K., Miyata, T., Yagi, H., Terrell, D. R., Vesely, S. K., Matsumoto, M., Lämmle, B., Fujimura, Y., Kremer Hovinga, J. A. & Hereditary TTP Registry, 10.2019, In: HAEMATOLOGICA. 104, 10, p. 2107-2115 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations
König, G., Obser, T., Marggraf, O., Schneppenheim, S., Budde, U., Schneppenheim, R. & Brehm, M. A., 07.2019, In: THROMB HAEMOSTASIS. 119, 7, p. 1102-1111 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1
Thomas, C., Knerlich-Lukoschus, F., Reinhard, H., Johann, P. D., Sturm, D., Sahm, F., Bens, S., Vogt, J., Nemes, K., Oyen, F., Kordes, U., Siebert, R., Schneppenheim, R., Messing-Jünger, M., Pietsch, T., von Deimling, A., Paulus, W., Pfister, S. M., Kool, M., Frühwald, M. C. & Hasselblatt, M., 05.2019, In: ACTA NEUROPATHOL. 137, 5, p. 847-850 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterization of VWF gene conversions causing von Willebrand disease
Ahmad, F., Kannan, M., Obser, T., Budde, U., Schneppenheim, S., Saxena, R. & Schneppenheim, R., 03.2019, In: BRIT J HAEMATOL. 184, 5, p. 817-825 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Structure and dynamics of the platelet integrin-binding C4 domain of von Willebrand factor
Xu, E-R., von Bülow, S., Chen, P-C., Lenting, P. J., Kolšek, K., Aponte-Santamaría, C., Simon, B., Foot, J., Obser, T., Schneppenheim, R., Gräter, F., Denis, C. V., Wilmanns, M. & Hennig, J., 24.01.2019, In: BLOOD. 133, 4, p. 366-376 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction
Schneppenheim, R., Hellermann, N., Brehm, M. A., Klemm, U., Obser, T., Huck, V., Schneider, S. W., Denis, C. V., Tischer, A., Auton, M., März, W., Xu, E-R., Wilmanns, M. & Zotz, R. B., 24.01.2019, In: BLOOD. 133, 4, p. 356-365 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging
Löf, A., König, G., Schneppenheim, S., Schneppenheim, R., Benoit, M., Budde, U., Müller, J. P. & Brehm, M. A., 2019, In: PLOS ONE. 14, 1, p. e0210963Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Von Willebrand Factor Mediates Pneumococcal Aggregation and Adhesion in Blood Flow
Jagau, H., Behrens, I-K., Lahme, K., Lorz, G., Köster, R. W., Schneppenheim, R., Obser, T., Brehm, M. A., König, G., Kohler, T. P., Rohde, M., Frank, R., Tegge, W., Fulde, M., Hammerschmidt, S., Steinert, M. & Bergmann, S., 2019, In: FRONT MICROBIOL. 10, p. 511Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Supplementary Therapeutic Recommendations
Hassenpflug, W-A. & Schneppenheim, R., 14.09.2018, In: DTSCH ARZTEBL INT. 155, 37, p. 608Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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, M. C., Schneppenheim, R. & Schüller, U., 08.2018, In: EUR J HUM GENET. 26, 8, p. 1083-1093 11 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Cellular stress induces erythrocyte assembly on intravascular von Willebrand factor strings and promotes microangiopathy
Nicolay, J. P., Thorn, V., Daniel, C., Amann, K., Siraskar, B., Lang, F., Hillgruber, C., Goerge, T., Hoffmann, S., Gorzelanny, C., Huck, V., Mess, C., Obser, T., Schneppenheim, R., Fleming, I., Schneider, M. F. & Schneider, S. W., 19.07.2018, In: SCI REP-UK. 8, 1, p. 10945Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, M. C. & EU-RHAB consortium, 06.2018, In: PEDIATR BLOOD CANCER. 65, p. e26999Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany
Hassenpflug, W. A., Obser, T., Bode, J., Oyen, F., Budde, U., Schneppenheim, S., Schneppenheim, R. & Brehm, M. A., 04.2018, In: THROMB HAEMOSTASIS. 118, 4, p. 709-722 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup
Johann, P. D., Bens, S., Oyen, F., Wagener, R., Giannini, C., Perry, A., Raisanen, J. M., Reis, G. F., Nobusawa, S., Arita, K., Felsberg, J., Reifenberger, G., Agaimy, A., Buslei, R., Capper, D., Pfister, S. M., Schneppenheim, R., Siebert, R., Frühwald, M. C., Paulus, W., Kool, M. & Hasselblatt, M., 04.2018, In: AM J SURG PATHOL. 42, 4, p. 506-511 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Interaction of von Willebrand factor domains with collagen investigated by single molecule force spectroscopy
Posch, S., Obser, T., König, G., Schneppenheim, R., Tampé, R. & Hinterdorfer, P., 28.03.2018, In: J CHEM PHYS. 148, 12, p. 123310Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glial papillary tumour of the spinal cord with SMARCB1/INI1-loss and favourable long-term outcome
Hasselblatt, M., Kurniawan, A. D., Rozsnoki, S., Johann, P. D., Bens, S., Oyen, F., Schneppenheim, R., Siebert, R., Capper, D., Kool, M., Schul, C. & Paulus, W., 02.2018, In: NEUROPATH APPL NEURO. 44, 2, p. 229-232 4 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
- 2017
Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura
Scully, M., Knöbl, P., Kentouche, K., Rice, L., Windyga, J., Schneppenheim, R., Kremer Hovinga, J. A., Kajiwara, M., Fujimura, Y., Maggiore, C., Doralt, J., Hibbard, C., Martell, L. & Ewenstein, B., 09.11.2017, In: BLOOD. 130, 19, p. 2055-2063 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Enhanced Local Disorder in a Clinically Elusive von Willebrand Factor Provokes High-Affinity Platelet Clumping
Tischer, A., Machha, V. R., Frontroth, J. P., Brehm, M. A., Obser, T., Schneppenheim, R., Mayne, L., Walter Englander, S. & Auton, M., 07.07.2017, In: J MOL BIOL. 429, 14, p. 2161-2177 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cribriform neuroepithelial tumor: Molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome
Johann, P. D., Hovestadt, V., Thomas, C., Jeibmann, A., Heß, K., Bens, S., Oyen, F., Hawkins, C., Pierson, C. R., Aldape, K., Kim, S-P., Widing, E., Sumerauer, D., Hauser, P., van Landeghem, F., Ryzhova, M., Korshunov, A., Capper, D., Jones, D. T. W., Pfister, S. M., Schneppenheim, R., Siebert, R., Paulus, W., Frühwald, M. C., Kool, M. & Hasselblatt, M., 07.2017, In: BRAIN PATHOL. 27, 4, p. 411-418Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K-M., Deubzer, H., Dirksen, U., Eckert, C., Eggert, A., Erlacher, M., Fleischhack, G., Frühwald, M. C., 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, C. M., Kuhlen, M., Kulozik, A. E., Lamottke, B., Leuschner, I., Lohmann, D. R., Meinhardt, A., Metzler, M., Meyer, L. H., Moser, O., Nathrath, M., Niemeyer, C. M., Nustede, R., Pajtler, K. W., 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, A. O., Vorwerk, P., Witt, O., Wlodarski, M., Wössmann, W., Zenker, M., Zimmermann, S., Pfister, S. M. & Kratz, C. P., 04.2017, In: AM J MED GENET A. 173, 4, p. 1017-1037 21 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series
Lehmberg, K., Hassenpflug, W. A., Klaassen, I., Hillebrand, G., Oyen, F., Budde, U., Singer, D. & Schneppenheim, R., 02.2017, In: Z GEBURTSH NEONATOL. 221, 1, p. 39-42Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism
Aponte-Santamaría, C., Lippok, S., Mittag, J. J., Obser, T., Schneppenheim, R., Baldauf, C., Gräter, F., Budde, U. & Rädler, J. O., 10.01.2017, In: BIOPHYS J. 112, 1, p. 57-65 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Atypical teratoid/rhabdoid tumor arising in a malignant glioma
Bozzai, B., Hasselblatt, M., Turányi, E., Frühwald, M. C., Siebert, R., Bens, S., Schneppenheim, R., Kool, M., Stelczer, G., Hortobágyi, T. & Hauser, P., 01.2017, In: PEDIATR BLOOD CANCER. 64, 1, p. 96-99 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutual A domain interactions in the force sensing protein von Willebrand factor
Posch, S., Aponte-Santamaría, C., Schwarzl, R., Karner, A., Radtke, M., Gräter, F., Obser, T., König, G., Brehm, M. A., Gruber, H. J., Netz, R. R., Baldauf, C., Schneppenheim, R., Tampé, R. & Hinterdorfer, P., 01.2017, In: J STRUCT BIOL. 197, 1, p. 57-64Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor
Stahn, V., Nagel, I., Fischer-Huchzermeyer, S., Oyen, F., Schneppenheim, R., Gesk, S., Bohring, A., Chikobava, L., Young, P., Gess, B., Werner, M., Senner, V. & Harder, A., 12.2016, In: AM J PATHOL. 186, 12, p. 3285-3296 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Small cell undifferentiated (SCUD) hepatoblastomas: All malignant rhabdoid tumors?
Vokuhl, C., Oyen, F., Häberle, B., von Schweinitz, D., Schneppenheim, R. & Leuschner, I., 12.2016, In: GENE CHROMOSOME CANC. 55, 12, p. 925-931 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami
Obser, T., Ledford-Kraemer, M., Oyen, F., Brehm, M. A., Denis, C. V., Marschalek, R., Montgomery, R. R., Sadler, J. E., Schneppenheim, S., Budde, U. & Schneppenheim, R., 09.2016, In: J THROMB HAEMOST. 14, 9, p. 1725-35 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Single molecule force spectroscopy data and BD- and MD simulations on the blood protein von Willebrand factor
Posch, S., Aponte-Santamaría, C., Schwarzl, R., Karner, A., Radtke, M., Gräter, F., Obser, T., König, G., Brehm, M. A., Gruber, H. J., Netz, R. R., Baldauf, C., Schneppenheim, R., Tampé, R. & Hinterdorfer, P., 09.2016, In: DATA BRIEF. 8, p. 1080-7 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, R-D., Teichert von Luettichau, I., Nagel, I., Nygaard, R., Oyen, F., Quiroga, E., Schlegel, P-G., Schmid, I., Schneppenheim, R., Siebert, R., Solano-Paez, P., Timmermann, B., Warmuth-Metz, M. & Frühwald, M. C., 08.2016, In: CANCER MED-US. 5, 8, p. 1765-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
pH-Dependent Interactions in Dimers Govern the Mechanics and Structure of von Willebrand Factor
Müller, J. P., Löf, A., Mielke, S., Obser, T., Bruetzel, L. K., Vanderlinden, W., Lipfert, J., Schneppenheim, R. & Benoit, M., 26.07.2016, In: BIOPHYS J. 111, 2, p. 312-22 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Von Willebrand factor regulates complement on endothelial cells
Noone, D. G., Riedl, M., Pluthero, F. G., Bowman, M. L., Liszewski, M. K., Lu, L., Quan, Y., Balgobin, S., Schneppenheim, R., Schneppenheim, S., Budde, U., James, P., Atkinson, J. P., Palaniyar, N., Kahr, W. H. A. & Licht, C., 07.2016, In: KIDNEY INT. 90, 1, p. 123-34 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant
Kerl, K., Oyen, F., Giannikopoulou, D., Rössig, C., Rellensmann, G., Sandkötter, J., Brentrup, A., Selzer, G., Schneppenheim, R. & Frühwald, M. C., 19.04.2016, In: PEDIATR BLOOD CANCER. 63, 8, p. 1451-3Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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, M. J., Antonelli, M., Giangaspero, F., Bernardo, M. C., Giannini, C., Ud Din, N., Perry, A., Keyvani, K., van Landeghem, F., Sumerauer, D., Hauser, P., Capper, D., Korshunov, A., Jones, D. T. W., Pfister, S. M., Schneppenheim, R., Siebert, R., Frühwald, M. C. & Kool, M., 11.04.2016, In: ACTA NEUROPATHOL. 132, 1, p. 149-51Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes
Johann, P. D., Erkek, S., Zapatka, M., Kerl, K., Buchhalter, I., Hovestadt, V., Jones, D. T. W., 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, A. E., Ebinger, M., Shalaby, T., Grotzer, M., Sumerauer, D., Zamecnik, J., Mora, J., Jabado, N., Taylor, M. D., Huang, A., Aronica, E., Bertoni, A., Radlwimmer, B., Pietsch, T., Schüller, U., Schneppenheim, R., Northcott, P. A., Korbel, J. O., Siebert, R., Frühwald, M. C., Lichter, P., Eils, R., Gajjar, A., Hasselblatt, M., Pfister, S. M. & Kool, M., 14.03.2016, In: CANCER CELL. 29, 3, p. 379-93 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
von Willebrand factor is dimerized by protein disulfide isomerase
Lippok, S., Kolšek, K., Löf, A., Eggert, D., Vanderlinden, W., Müller, J. P., König, G., Obser, T., Röhrs, K., Schneppenheim, S., Budde, U., Baldauf, C., Aponte-Santamaría, C., Gräter, F., Schneppenheim, R., Rädler, J. O. & Brehm, M. A., 03.03.2016, In: BLOOD. 127, 9, p. 1183-91 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review