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Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs2020 Birth Defects Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pauline C. Schut, Erwin Brosens, Tom J. M. Van Dooren, Frietson F Galis, Clara M. A. ten Broek, Inge M. M. Baijens, +6 more
6citations -
Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐ BRCA1 /2 sib trios affected with breast cancer2020 International Journal of Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Florentine Hilbers, Peter J. van `t Hof, Caro M. Meijers, Hailiang Mei, Kyriaki Michailidou, Joe Dennis, +4 more
2citations -
Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for ARVC: initial suspicion based on the 12-lead electrocardiogram
Jarieke C. Hoogendoorn, Laurens P. Bosman, Jeroen F. van der Heijden, A. Wilde, Sing‐Chien Yap, Anneline S.J.M. te Riele, +1 more
0citations -
Assessing genetic risk factors for early-onset coronary artery disease in Iranians2026 Research and Practice in Thrombosis and Haemostasis article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ilaria Mancini, Maria Teresa Pagliari, Saeed Sadeghian, Seyed Hesameddin Abbasi, Hamidreza Poorhosseini, Mohammad Ali Boroumand, +5 more
0citations -
Polygenic risk modeling for prediction of epithelial ovarian cancer risk2022 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Eileen Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Muriel A. Adank, +60 more
71citations -
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion2021 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Jan Maarten Wit, Sjoerd D. Joustra, Monique Losekoot, Hermine A. van Duyvenvoorde
22citations -
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia Antonenkova, Heiko Becher, Matthias W. Beckmann, +91 more
15citations -
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution2025 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Venda Mangkusaputra, A.G. Murachelli, Zhengzhou Yu, Roberta Menafra, Anne Schreuder, Susan L. Kloet, +2 more
7citations -
Using Machine Learning Methods to Assess Module Performance Contribution in Modular Optimization Frameworks2024 Evolutionary Computation article Computer Science Metaheuristic Optimization Algorithms Research Open access
Ana Kostovska, Diederick Vermetten, Peter Korošec, Sašo Džeroski, Carola Doerr, Tome Eftimov
6citations -
A Flow Cytometry‐Based Ultrahigh‐Throughput Screening Method for Directed Evolution of Oxidases2023 Angewandte Chemie International Edition article Biochemistry, Genetics and Molecular Biology Enzyme Catalysis and Immobilization Open access
Lilin Feng, Liang Gao, Volkan Besirlioglu, Khalil Essani, Malte Wittwer, Tetiana Kurkina, +2 more
6citations -
The effect of genetic variants in the transcription factor TSPYL family on the CYP3A4 mediated cyclosporine metabolism in kidney transplant patients2024 Clinical and Translational Science article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Qinglian Zhai, Dirk Jan A. R. Moes, Teun van Gelder, Maaike van der Lee, Jan‐Stephan Sanders, Fréderike J. Bemelman, +4 more
4citations -
Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy2025 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Esther J. Schrama, Zaïda Koeks, Nienke M. van de Velde, Iris Alleman, Jules J. van Benthem, Pieteke W. van Weperen, +8 more
2citations -
IGF1 and Insulin Receptor Single Nucleotide Variants Associated with Response in HER2-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy with or without a Fasting Mimicking Diet (BOOG 2013-04 DIRECT Trial)2023 Cancers article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Nadia de Gruil, Stefan Böhringer, Stefanie de Groot, Hanno Pijl, Judith R. Kroep, Jesse Joachim Swen
2citations -
Loss of GPR146 decreases plasma levels of HDL cholesterol via post-translational up-regulation of SR-B1 protein levels2025 Cardiovascular Research article Biochemistry, Genetics and Molecular Biology Cholesterol and Lipid Metabolism Open access
Natalia Loaiza, Antoine Rimbert, Federico Oldoni, Lisanne L. Blauw, Patrick C.N. Rensen, Laurent O. Martinez, +9 more
1citations -
Uncoupling DNA damage from chromatin damage to detoxify doxorubicin2020 Proceedings of the National Academy of Sciences article Biochemistry, Genetics and Molecular Biology Cancer therapeutics and mechanisms Open access cited by 4 patents
Xiaohang Qiao, Sabina Y. van der Zanden, Dennis P. A. Wander, Daniel Borràs, Ji‐Ying Song, Xiaoyang Li, +21 more
177citations