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Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +9 more
23citations -
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology Melanoma and MAPK Pathways Open access
Sofia Birkeälv, Mark Harland, Larissa Satiko Alcântara Sekimoto Matsuyama, Ishan Mehta, Jonathan P. Laye, Kerstin Haase, +11 more
16citations -
Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function2023 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Edward P. Carter, Kubra K Yoneten, Núria Gavara, Eleanor J. Tyler, Elizabeth R. Murray, Peter ten Dijke, +3 more
12citations -
Characterization of discordance between mismatch repair deficiency and microsatellite instability testing may prevent inappropriate treatment with immunotherapy
Birgit S. Geurts, Laurien Joanna Zeverijn, Jade M. van Berge Henegouwen, Hanneke van der Wijngaart, Louisa Rose Hoes, Gijs F. de Wit, +13 more
10citations -
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non‐high‐grade serous ovarian carcinomas2023 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Claire J.H. Kramer, Lieke Lanjouw, Dina Ruano, Arja ter Elst, Giacomo Santandrea, Nienke Solleveld‐Westerink, +13 more
8citations -
Deletion of mTOR in liver epithelial cells enhances hepatic metastasis of colon cancer2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology PI3K/AKT/mTOR signaling in cancer Open access
Long R. Jiao, Roman Eickhoff, Sandra Jumpertz, Merve Erdem, Andreas Kroh, Hans Duimel, +7 more
7citations -
Ductal carcinoma in situ develops within clonal fields of mutant cells in morphologically normal ducts2024 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Stefan J. Hutten, Hendrik A. Messal, Esther H. Lips, Michael Sheinman, Marta Ciwinska, Esmee Braams, +8 more
6citations -
Truncated FOS impairs osteogenic differentiation and induces prostaglandin and NFκB signalling in an in vitro cell‐of‐origin model for osteoid osteoma and osteoblastoma
Suk Wai Lam, Tatiana Belova, Natasja Franceschini, Brendy E. van den Akker, David G.P. van IJzendoorn, Harald M. M. Mikkers, +5 more
3citations -
Polyketide synthase positive Escherichia coli one‐time measurement in stool is not informative of colorectal cancer risk in a screening setting2024 The Journal of Pathology article Medicine Colorectal Cancer Screening and Detection Open access
Willemijn de Klaver, Meike de Wit, Anne S. Bolijn, Marianne Tijssen, Pien Delis‐van Diemen, Margriet Lemmens, +8 more
2citations