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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry2022 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Martine Dumont, Nana Weber‐Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing Feng, +69 more
6citations -
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 -
Lipocalin-2 regulates the expression of interferon-stimulated genes and the susceptibility of prostate cancer cells to oncolytic virus infection2023 European Journal of Cell Biology article Immunology and Microbiology interferon and immune responses Open access
Lilach Barer, Sarah K. Schröder, Ralf Weiskirchen, Eran Bacharach, Marcelo Ehrlich
12citations -
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 -
Rheumatoid arthritis susceptibility genes show pathotype-specific expression in synovial tissue of patients with early treatment-naïve RA2026 Annals of the Rheumatic Diseases article Medicine Rheumatoid Arthritis Research and Therapies Open access
Inez C Den Hond, Marcel J. T. Reinders, Myles Lewis, Felice Rivellese, Costantino Pitzalis, Soon Wei Wong, +3 more
0citations -
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 -
Candidate gene family-based and case-control studies of susceptibility to high Schistosoma mansoni worm burden in African children: a protocol2021 AAS Open Research article Immunology and Microbiology Parasites and Host Interactions Open access
Oscar A. Nyangiri, Sokouri A. Edwige, Mathurin Koffi, Estelle Mezajou Mewamba, Gustave Simo, Joyce Namulondo, +11 more
4citations -
Mitochondrial gene signature in the prefrontal cortex for differential susceptibility to chronic stress2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Meltem Weger, Daniel Alpern, Antoine Cherix, Sriparna Ghosal, Jocelyn Grosse, Julie Russeil, +4 more
71citations -
Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosis2021 European Heart Journal Open article Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Lotte Slenders, Lennart P. L. Landsmeer, Kai Cui, Marie A.C. Depuydt, Maarten C. Verwer, Joost M. Mekke, +17 more
77citations -
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 -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Stefanie H. Mueller, Alvina Grace Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, +91 more
15citations -
Unsuspected Associations of Variants within the Genes NOTCH4 and STEAP2-AS1 Uncovered by a GWAS in Endemic Pemphigus Foliaceus2021 Journal of Investigative Dermatology article Medicine Autoimmune Bullous Skin Diseases Open access
Danillo G. Augusto, Rodrigo Coutinho de Almeida, Ticiana D.J. Farias, Wagner C. S. Magalhães, Danielle Malheiros, Maria Fernanda Lima‐Costa, +11 more
4citations -
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 -
Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation2021 The Pharmacogenomics Journal article Medicine Hematopoietic Stem Cell Transplantation Open access
Chakradhara Rao S. Uppugunduri, Patricia Huezo-Diaz, Tiago Nava, Mohamed Aziz Rezgui, Vid Mlakar, Simona Jurković Mlakar, +16 more
2citations -
PRMT4 inhibitor TP-064 impacts both inflammatory and metabolic processes without changing the susceptibility for early atherosclerotic lesions in male apolipoprotein E knockout mice2021 Atherosclerosis article Biochemistry, Genetics and Molecular Biology Cancer-related gene regulation Open access
Yiheng Zhang, Robin A.F. Verwilligen, Timothy J. P. Sijsenaar, Miranda Van Eck, Menno Hoekstra
14citations -
Evidence for Allele-Specific Levels of Enhanced Susceptibility of Wheat mlo Mutants to the Hemibiotrophic Fungal Pathogen Magnaporthe oryzae pv. Triticum2020 Genes article Agricultural and Biological Sciences Wheat and Barley Genetics and Pathology Open access
Katrin Grüner, Tobias Esser, Johanna Acevedo‐Garcia, Matthias Freh, Michael Habig, Roxana Strugala, +3 more
33citations -
Variation in RARG increases susceptibility to doxorubicin-induced cardiotoxicity in patient specific induced pluripotent stem cell-derived cardiomyocytes2020 Scientific Reports article Medicine Chemotherapy-induced cardiotoxicity and mitigation Open access
Effimia Christidi, Haojun Huang, Sanam Shafaattalab, A. Maillet, Eric C. Lin, Kate Huang, +4 more
49citations -
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations2022 Diabetologia article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Lauren A. Stalbow, Michael H Preuss, Roelof A. J. Smit, Nathalie Chami, Lise Bjørkhaug, Ingvild Aukrust, +2 more
8citations