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Real‐world study on fluoropyrimidine‐related toxicity outcomes in cancer patients with select DPYD variant alleles that received DPYD genotype‐guided dosing2025 International Journal of Cancer article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sofía L. J. Peeters, Didier Meulendijks, Zerina Kadric, Sara Ibrovic, Geert‐Jan Creemers, Vanja Milosevic, +7 more
6citations -
PS-AAS: Portfolio Selection for Automated Algorithm Selection in Black-Box Optimization - Reproducibility Repository2023 Zenodo (CERN European Organization for Nuclear Research) article Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Gjorgjina Cenikj, Diederick Vermetten, Anja Jankovič, Ana Nikolikj, Urban Škvorc, +3 more
0citations -
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Bianca Zardetto, Marlen C. Lauffer, Willeke van Roon‐Mom, Annemieke M Aartsma-Rus, on behalf of the N Collaborative
7citations -
Evidence of selection in the uncoupling protein 1 gene region suggests local adaptation to solar irradiance in savannah monkeys ( Chlorocebus spp.)2022 Proceedings of the Royal Society B Biological Sciences article Biochemistry, Genetics and Molecular Biology Genetic diversity and population structure Open access
Christian M. Gagnon, Hannes Svardal, Anna J. Jasinska, Jennifer Danzy Cramer, Nelson B. Freimer, J. Paul Grobler, +2 more
3citations -
Model‐Based Patient Selection and Dosing Strategies for HRAS and PIK3CA Dysregulated HNSCC : A QSP Model for Alpelisib and Tipifarnib Combination2026 Clinical Pharmacology & Therapeutics article Biochemistry, Genetics and Molecular Biology PI3K/AKT/mTOR signaling in cancer Open access
Jaehee V. Shim, Douglas Chung, Alison Smith, Shivani Malik, Binaifer Balsara, Francis Burrows, +2 more
2citations -
Comparison of the ABC and ACMG systems for variant classification2024 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė, Ivona Sansović, +41 more
15citations -
Auto-encoder-based algorithm for the selection of key characteristics for products to reduce inspection efforts2022 International Journal of Quality & Reliability Management article Engineering Fault Detection and Control Systems
Jonathan Greipel, Regina M. Frank, Meike Huber, Ansgar Steland, Robert Heinrich Schmitt
2citations -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature2020 The Journal of Clinical Endocrinology & Metabolism article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Peter Lauffer, Erick Miranda‐Laferte, Hermine A. van Duyvenvoorde, Arie van Haeringen, Franziska Werner, Eveline Boudin, +4 more
9citations -
Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Iris charlotte Kreft, Tirsa T van Duijl, Calvin B. van Kwawegen, Ferdows Atiq, Winny Phan, Margo B. P. Schuller, +8 more
11citations -
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation2023 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mark van Barele, Delal Akdeniz, Bernadette A. M. Heemskerk‐Gerritsen, Nadine Andrieu, Catherine Noguès, Christi J. van Asperen, +28 more
11citations -
Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study2026 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maartje A. C. Schreurs, Antoinette Hollestelle, Muriel A. Adank, Yvonne V. Louwers, Christie J. van Asperen, Margreet G.E.M. Ausems, +10 more
0citations -
The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Danny Houtsma, Stefanie de Groot, Renée F. Baak-Pablo, Elma Meershoek‐Klein Kranenbarg, Caroline Seynaeve, Cornelis J.�H. van de Velde, +4 more
8citations -
Pancreatic cancer surveillance: Risk stratification of individuals with a germline CDKN2A pathogenic variant2024 United European Gastroenterology Journal article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Jihane Meziani, Djuna L. Cahen, Merel van Diepen, Marco J. Bruno, Monique Esther van Leerdam
6citations -
High-grade serous carcinoma occurring after risk-reducing salpingo-oophorectomy in BRCA1/2 germline pathogenic variant carriers2024 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Iris A.S. Stroot, Joost Bart, Harry Hollema, Marise M. Wagner, Refika Yigit, Helena C. van Doorn, +13 more
5citations -
Deep learning-based predictive modeling of PNPLA3 variant carriers using radiomics data from the UK Biobank2024 Zeitschrift für Gastroenterologie article Medicine Radiomics and Machine Learning in Medical Imaging
Yazhou Chen, Benjamin P. M. Laevens, Teresa Lemainque, Gustav Anton Müller‐Franzes, Daniel Truhn, Carolin Victoria Schneider
0citations