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    Article

    Genomics and drug profiling of fatal TCF3-HLF−positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options

    Jean-Pierre Bourquin, Martin Stanulla and colleagues report whole genome, whole exome and transcriptome sequencing of TCF3-HLF fusion–positive acute lymphoblastic leukemia. Drug response profiling in patient-deri...

    Ute Fischer, Michael Forster, Anna Rinaldi, Thomas Risch in Nature Genetics (2015)

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    Article

    Fatal Lymphoproliferative Disease in Two Siblings Lacking Functional FAAP24

    Hereditary defects in several genes have been shown to disturb the normal immune response to EBV and to give rise to severe EBV-induced lymphoproliferation in the recent years. Nevertheless, in many patients, ...

    Svenja Daschkey, Kirsten Bienemann, Volker Schuster in Journal of Clinical Immunology (2016)

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    Article

    Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots

    Medulloblastoma is the most frequent malignant brain tumor in childhood. This highly malignant neoplasm occurs usually before 10 years of age and more frequently in boys. The 5-year event-free survival rate fo...

    Celine Chiu, Stefanie Loth, Michaela Kuhlen, Sebastian Ginzel in Familial Cancer (2019)