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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 -
Combined inhibition of EZH2 and ATM is synthetic lethal in BRCA1-deficient breast cancer2022 Breast Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leonie Ratz, Chiara Svetlana Brambillasca, Leandra Bartke, Maxim A. Huetzen, Jonas Goergens, Orsolya Leidecker, +16 more
16citations -
Transcriptomic Signatures Associated With Regional Cortical Thickness Changes in Parkinson’s Disease2021 Frontiers in Neuroscience article Medicine Parkinson's Disease Mechanisms and Treatments Open access
Arlin Keo, Oleh Dzyubachyk, Jeroen van der Grond, Jacobus Johannes van Hilten, Marcel J. T. Reinders, Ahmed Essam Mahfouz
8citations -
Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia2023 Stem Cell Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Wasifa Nurieva, Sanabel Chehab, Parth Singh, Marina Reichlmeir, Károly Szuhai, Georg W. J. Auburger, +2 more
4citations -
Transcriptomic signatures associated with regional cortical thickness changes in Parkinson’s disease2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Parkinson's Disease Mechanisms and Treatments Open access
Arlin Keo, Oleh Dzyubachyk, Jeroen van der Grond, Jacobus Johannes van Hilten, Marcel J. T. Reinders, Ahmed Essam Mahfouz
0citations -
Combined inhibition of EZH2 and ATM is synthetic lethal in BRCA1-deficient breast cancer2022 Geburtshilfe und Frauenheilkunde article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Leonie Ratz, Chiara Svetlana Brambillasca, Leandra Bartke, Maxim A. Huetzen, Jonas Goergens, Orsolya Leidecker, +16 more
0citations -
EZH2 Inhibition Sensitizes BRCA1-Deficient Breast Cancer to Synthetic Lethal Therapy with ATM Inhibitors2021 Research Square preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leonie Ratz, Chiara Svetlana Brambillasca, Leandra Bartke, Marieke van de Ven, Natalie Proost, Bjørn Siteur, +12 more
0citations -
The mycobacterial mutasome: composition and recruitment in live cells2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Tuberculosis Research and Epidemiology Open access
Sophia J. Gessner, Zela Alexandria-Mae Martin, Joana A. Santos, Neeraj Dhar, Ryan Dinkele, Timothy J. de Wet, +12 more
4citations -
CHD7 and 53BP1 regulate distinct pathways for the re-ligation of DNA double-strand breaks2020 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Magdalena B. Rother, Stefania Pellegrino, Rebecca Smith, Marco Gatti, Cornelia Meisenberg, Wouter W. Wiegant, +7 more
55citations -
Functional impact of Nth like DNA glycosylase 1 on mitochondrial dynamics2026 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Lisa Hubers, Alexander Myhr Skjetne, Luisa Luna, Yohan Lefol, Solveig Osnes Lund, Ane Marit Wågbø, +9 more
0citations -
Genomic profiling of post-transplant lymphoproliferative disorders using cell-free DNA2023 Journal of Hematology & Oncology article Medicine Viral-associated cancers and disorders Open access
Nick Veltmaat, Yujie Zhong, Filipe Montes de Jesus, Geok Wee Tan, Johanna A.A. Bult, Martijn M. Terpstra, +13 more
15citations -
A missense variant effect map for the human tumor-suppressor protein CHK22024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Maria H. T. Nguyen, Jochen Weile, Roujia Li, +12 more
14citations -
A missense variant effect map for the human tumour suppressor protein CHK22024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Jochen Weile, Roujia Li, Michelle Gavac, +9 more
1citations -
Multi-level monitoring of EME1-MUS81 in CPT induced nucleolar rDNA repair2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Bakshi Karishma, Easa Nagamalleswari, Jan Breucker, Nathalie Eisenhardt, Richa Tiwari, Román González‐Prieto, +8 more
0citations