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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: ripperger t. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Prevalence of Pathogenic Germline Variants in Women with Non-Familial Unilateral Triple-Negative Breast Cancer.
Rhiem K, Zachariae S, Waha A, Grill S, Hester A, Golatta M, van Mackelenbergh M, Fehm T, Schlaiß T, Ripperger T, Ledig S, Meisel C, Speiser D, Veselinovic K, Schröder C, Witzel I, Gallwas J, Weber BHF, Solbach C, Aktas B, Hahnen E, Engel C, Schmutzler R. Rhiem K, et al. Among authors: ripperger t. Breast Care (Basel). 2023 May;18(2):106-112. doi: 10.1159/000528972. Epub 2023 Jan 6. Breast Care (Basel). 2023. PMID: 37261134 Free PMC article.
Validation and clinical application of transactivation assays for RUNX1 variant classification.
Decker M, Agarwal A, Benneche A, Churpek J, Duployez N, Duvall A, Ernst MPT, Förster A, Høberg-Vetti H, Hofmann I, Nash M, Raaijmakers MHGP, Tvedt THA, Vlachos A, Schlegelberger B, Illig T, Ripperger T. Decker M, et al. Among authors: ripperger t. Blood Adv. 2022 Jun 14;6(11):3195-3200. doi: 10.1182/bloodadvances.2021006161. Blood Adv. 2022. PMID: 35026845 Free PMC article.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: ripperger t. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Ernst MPT, Versluis J, Valk PJM, Bierings M, Tamminga RYJ, Hooimeijer LH, Döhner K, Gresele P, Tawana K, Langemeijer SMC, Van der Reijden BA, Podgornik H, Sever M, Tvedt THA, Vulliamy T, Fitzgibbon J, Dokal I, Baliakas P, Bastida JM, Pohlkamp C, Haferlach T, Larcher L, Soulier J, Schutgens REG, Freson K, Duployez N, Löwenberg B, Ericson K, Cammenga J, Ripperger T, Raaijmakers MHGP. Ernst MPT, et al. Among authors: ripperger t. Hemasphere. 2025 Jan 16;9(1):e70057. doi: 10.1002/hem3.70057. eCollection 2025 Jan. Hemasphere. 2025. PMID: 39822584 Free PMC article.
87 results