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Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data2022 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Alireza Tafazoli, Maaike van der Lee, Jesse Joachim Swen, Anna Zeller, Natalia Wawrusiewicz‐Kurylonek, Hailiang Mei, +4 more
14citations -
Scoping review of genetic databases for rare dermatologic diseases: Opportunity for artificial intelligence and machine learning2023 JAAD International article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Celine M. Schreidah, George Bingham Reynolds, Lauren M. Fahmy, Richard D. Carvajal, Maarten H. Vermeer, Sean J Whittaker, +2 more
6citations -
Working alliance in exposure-based treatments of posttraumatic stress disorder related to childhood abuse.2024 Journal of Consulting and Clinical Psychology article Psychology Psychotherapy Techniques and Applications Open access
Danielle A. C. Oprel, Chris Maria Hoeboer, Maartje Schoorl, Rianne A. de Kleine, Willem A. J. van der Does, Agnes van Minnen
4citations -
Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data2025 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lieke Lanjouw, Claire J.H. Kramer, Arja ter Elst, Geertruida H. de Bock, Katja N. Gaarenstroom, Refika Yigit, +10 more
2citations -
Telomere biology disorders associated with childhood interstitial lung disease2026 Korean Journal of Pediatrics article Medicine Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis Open access
M Greiner-Mai, Christina Katharina Rapp, Katrin Knoflach, Daniel Gräfe, W. Hirsch, Julia Ley‐Zaporozhan, +16 more
1citations -
Lessons learned from a candidate gene study investigating aromatase inhibitor treatment outcome in breast cancer2025 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Reiner Hoppe, Stefan Winter, Wing‐Yee Lo, Kyriaki Michailidou, Manjeet K. Bolla, Renske Keeman, +68 more
1citations -
A Landscape Analysis of Human SUMOylation2026 Molecular & Cellular Proteomics article Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access
Shireen Al-Momani, Kerry A. Ramsbottom, Andrew Collins, Ellen Boswell, Ivo Alexander Hendriks, Michael Lund Nielsen, +11 more
1citations -
Generation of isogenic allelic series of LMNA-mutated hiPSC lines using the novel and highly-efficient targeting platform, STRAIGHT-IN2024 Cardiovascular Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Viviana Meraviglia, Albert Blanch-Asensio, Richard P. Davis, Christine L. Mummery, Milena Bellin
0citations -
Poor outcome of patients with COVID-19 after CAR T-cell therapy for B-cell malignancies: results of a multicenter study on behalf of the European Society for Blood and Marrow Transplantation (EBMT) Infectious Diseases Working Party and the European Hematology Association (EHA) Lymphoma Group
Anne Mea Spanjaart, Per T Ljungman, Rafael de la Cámara, Gloria Tridello, Valentín Ortiz‐Maldonado, Álvaro Urbano-Ispizúa, +28 more
115citations -
HLA‐G whole gene amplification reveals linkage disequilibrium between the HLA‐G 3′UTR and coding sequence2020 HLA article Immunology and Microbiology Reproductive System and Pregnancy Open access cited by 4 patents
Jos J. M. Drabbels, Robert Welleweerd, Inge van Rooy, Guro Mørk Johnsen, Anne Cathrine Staff, Geert W. Haasnoot, +4 more
24citations -
Does serous tubal intraepithelial carcinoma (STIC) metastasize? The clonal relationship between STIC and subsequent high-grade serous carcinoma in BRCA1/2 mutation carriers several years after risk-reducing salpingo-oophorectomy2024 Gynecologic Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Caroline B. van den Berg, Shatavisha Dasgupta, Patricia C. Ewing‐Graham, Joost Bart, Johan Bulten, Katja N. Gaarenstroom, +6 more
18citations -
The association between mitochondrial DNA abundance and stroke: A combination of multivariable-adjusted survival and Mendelian randomization analyses2022 Atherosclerosis article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Leon G. Martens, Jiao Min Luo, Marieke J.H. Wermer, Ko Willems van Dijk, Sara Hägg, Felix Graßmann, +2 more
15citations -
The pharmacogenomic landscape of an Indigenous Australian population2023 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sumudu Rangika Samarasinghe, Wendy E. Hoy, Sudhir Jadhao, Brendan John McMorran, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
14citations -
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Pam A T Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, +13 more
9citations -
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies2022 International Journal of Molecular Sciences article Medicine Hemoglobinopathies and Related Disorders Open access
Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, +2 more
7citations