Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants
Pastor, V, Hirabayashi, S, Karow, A, Wehrle, J, Kozyra, E J, Nienhold, R, Ruzaike, G, Lebrecht, D, Yoshimi, A, Niewisch, M, Ripperger, T, Göhring, G, Baumann, I, Schwarz, S, Strahm, B, Flotho, C, Skoda, R C, Niemeyer, C M, Wlodarski, M W
Published in Leukemia (01.03.2017)
Published in Leukemia (01.03.2017)
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Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019
Suerink, M., Wimmer, K., Brugieres, L., Colas, C., Gallon, R., Ripperger, T., Benusiglio, P. R., Bleiker, E. M. A., Ghorbanoghli, Z., Goldberg, Y., Hardwick, J. C. H., Kloor, M., le Mentec, M., Muleris, M., Pineda, M., Ruiz-Ponte, C., Vasen, H. F. A.
Published in Familial cancer (01.01.2021)
Published in Familial cancer (01.01.2021)
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Conference Proceeding
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?
Ripperger, T, Steinemann, D, Göhring, G, Finke, J, Niemeyer, C M, Strahm, B, Schlegelberger, B
Published in Leukemia (01.07.2009)
Published in Leukemia (01.07.2009)
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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Rahikkala, Elisa, Holmes, Tim D., Chiang, Samuel C.C., Komulainen-Ebrahim, Jonna, Gorcenco, Sorina, Rundberg Nilsson, Alexandra, Ripperger, Tim, Kokkonen, Hannaleena, Bryder, David, Fioretos, Thoas, Henter, Jan-Inge, Möttönen, Merja, Niinimäki, Riitta, Nilsson, Lars, Pronk, Cornelis Jan, Puschmann, Andreas, Qian, Hong, Uusimaa, Johanna, Moilanen, Jukka, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan T.
Published in Blood (20.04.2017)
Published in Blood (20.04.2017)
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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Gallon, Richard, Mühlegger, Barbara, Wenzel, Sören‐Sebastian, Sheth, Harsh, Hayes, Christine, Aretz, Stefan, Dahan, Karin, Foulkes, William, Kratz, Christian P., Ripperger, Tim, Azizi, Amedeo A., Baris Feldman, Hagit, Chong, Anne‐Laure, Demirsoy, Ugur, Florkin, Benoît, Imschweiler, Thomas, Januszkiewicz‐Lewandowska, Danuta, Lobitz, Stephan, Nathrath, Michaela, Pander, Hans‐Jürgen, Perez‐Alonso, Vanesa, Perne, Claudia, Ragab, Iman, Rosenbaum, Thorsten, Rueda, Daniel, Seidel, Markus G., Suerink, Manon, Taeubner, Julia, Zimmermann, Stefanie‐Yvonne, Zschocke, Johannes, Borthwick, Gillian M., Burn, John, Jackson, Michael S., Santibanez‐Koref, Mauro, Wimmer, Katharina
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Web Resource
Functional characterization of RUNX1 variants in the context of FPDMM
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Conference Proceeding
Cytopenia, Predisposition to Myelodysplastic Syndrome, Immunodeficiency, and Neurological Disease Caused By Gain-of-Function SAMD9L Mutations Is Frequently Ameliorated By Hematopoietic Revertant Mosaicism
Tesi, Bianca, Davidsson, Josef, Voss, Matthias, Holmes, Timothy, Ripperger, Tim, Chiang, Samuel, Nilsson, Lars, Nordenskjöld, Magnus, Henter, Jan-Inge, Bryder, David, Fioretos, Thoas, Uusimaa, Johanna, Komulainen-Ebrahim, Jonna, Möttönen, Merja, Niinimäki, Riitta, Moilanen, Jukka, Rahikkala, Elisa, Tedgård, Ulf, Cammenga, Jörg, Bryceson, Yenan
Published in BLOOD (02.12.2016)
Published in BLOOD (02.12.2016)
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Conference Proceeding
PS1326 IMPLEMENTATION OF FUNCTIONAL ASSAYS TO CHARACTERIZE AND DETERMINE THE CLINICAL IMPACT OF RUNX1 VARIANTS OF UNCERTAIN SIGNIFICANCE IN SPORADIC DISEASES AS WELL AS IN THE CONTEXT OF FPDMM
Decker, M., Lammens, T., Ferster, A., Godley, L., Erlacher, M., Yoshimi, A., Niemeyer, C.M., Steinemann, D., Schlegelberger, B., Illig, T., Ripperger, T.
Published in HemaSphere (01.06.2019)
Published in HemaSphere (01.06.2019)
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Constitutional mismatch repair deficiency and childhood leukemia/lymphoma – report on a novel biallelic MSH6 mutation
RIPPERGER, Tim, BEGER, Carmela, RAHNER, Nils, SYKORA, Karl W, BOCKMEYER, Clemens L, LEHMANN, Ulrich, KREIPE, Hans H, SCHLEGELBERGER, Brigitte
Published in Haematologica (Roma) (01.05.2010)
Published in Haematologica (Roma) (01.05.2010)
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Molecular cytogenetic characterization of the mantle cell lymphoma cell line GRANTA-519
Rudolph, C., Steinemann, D., von Neuhoff, N., Gadzicki, D., Ripperger, T., Drexler, H.G., Mrasek, K., Liehr, T., Claussen, U., Emura, M., Schrock, E., Schlegelberger, B.
Published in Cancer genetics and cytogenetics (01.09.2004)
Published in Cancer genetics and cytogenetics (01.09.2004)
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Gain-of-function SAMD9L mutations cause a syndrome with cytopenia, myelodysplastic syndrome, immunodeficiency and neurological disease
Tesi, B, Davidsson, J, Voss, M, Rahikkala, E, Holmes, T, Chiang, S, Komulainen-Ebrahim, J, Gorcenco, S, Nilsson, AR, Ripperger, T, Kokkonen, H, Bryder, D, Fioretos, T, Henter, J, Mottonen, M, Niinimaki, R, Nilsson, L, Pronk, CJ, Puschmann, A, Qian, H, Uusimaa, J, Moilanen, J, Tedgard, U, Cammenga, J, Bryceson, YT
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Conference Proceeding
Linksatriale Raumforderung und Lentigines
Behnert, A., Ripperger, T., Jack, T., Franke, D., Horke, A., Kratz, C.
Published in Monatsschrift Kinderheilkunde (01.12.2016)
Published in Monatsschrift Kinderheilkunde (01.12.2016)
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Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle cell lymphomas
Ripperger, Tim, von Neuhoff, Nils, Kamphues, Kathrin, Emura, Makito, Lehmann, Ulrich, Tauscher, Marcel, Schraders, Margit, Groenen, Patricia, Skawran, Britta, Rudolph, Cornelia, Callet-Bauchu, Evelyne, van Krieken, Johan H.J.M, Schlegelberger, Brigitte, Steinemann, Doris
Published in Haematologica (Roma) (01.04.2007)
Published in Haematologica (Roma) (01.04.2007)
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