Not finding it? Sign in to also search OpenAlex live.
-
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 -
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
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 -
Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls2023 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Maria A. Loizidou, Denise G O'Mahony, Leila Dorling, Joe Dennis, Peter Devilee, +4 more
2citations -
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies2026 BJC Reports article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Isaac Allen, Nancy Whish, Siddhartha Yadav, Nicholas James Boddicker, Caroline A. Drukker, Irma van de Beek, +8 more
0citations -
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 -
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 -
Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms2026 Blood Cancer Journal article Medicine Myeloproliferative Neoplasms: Diagnosis and Treatment Open access
Robert Meyer, María Jimena Rodriguez, Madeline J. Caduc, Kim Kricheldorf, Matthias Begemann, Florian Kraft, +14 more
2citations -
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sanami Takada, Thomas J. Weitering, Nienke J.H. van Os, Likun Du, Ingrid Pico‐Knijnenburg, Thomas B. Kuipers, +6 more
18citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, +90 more
60citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, Stephan Heijl, +89 more
5citations -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes2022 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Nasim Mavaddat, Leila Dorling, Jamie Allen, Anna González‐Neira, Renske Keeman, Manjeet K. Bolla, +85 more
171citations -
Normal Numbers of Stem Cell Memory T Cells Despite Strongly Reduced Naive T Cells Support Intact Memory T Cell Compartment in Ataxia Telangiectasia2021 Frontiers in Immunology article Immunology and Microbiology T-cell and B-cell Immunology Open access
Thomas J. Weitering, Janine E. Melsen, Monique M. van Ostaijen-ten Dam, Corry M.R. Weemaes, Marco W. Schilham, Mirjam van der Burg
11citations -
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer2025 British Journal of Urology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Wouter Koole, R. Jeroen A. van Moorselaar, Eveline M. A. Bleiker, Ellen van de Geer, Hanneke W. M. van Deutekom, +11 more
3citations -
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inge M. M. Lakeman, Mar D M Rodríguez-Girondo, Andrew Lee, Nandi Celosse, Merel E. Braspenning, Klaartje van Engelen, +11 more
37citations -
Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +45 more
1citations -
Rare germline copy number variants (CNVs) and breast cancer risk2022 Communications Biology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla, +88 more
15citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C , RAD51D , BARD1 updates to tumour pathology and cancer incidence2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Lorenzo Ficorella, Stephanie Archer, Fiona Mary Walter, +15 more
74citations -
The impact of coding germline variants on contralateral breast cancer risk and survival2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anna Morra, Nasim Mavaddat, Taru Muranen, Thomas U. Ahearn, Jamie Allen, Irene Louise Andrulis, +90 more
28citations -
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 , updates to tumour pathology and cancer incidences2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Andrew Lee, Nasim Mavaddat, Tim J. Carver, Stephanie Archer, Fiona Mary Walter, Marc D. Tischkowitz, +14 more
6citations -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives2024 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Margreet G.E.M. Ausems, Gina Schijven, Inge M. van Oort, C. Marleen Kets, Fenne L. Komdeur, +5 more
3citations -
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +56 more
67citations