MRC Holland (Netherlands)

Recent papers from MRC Holland (Netherlands)

1. digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screeningEuropean Journal of Human Genetics · 2026
2. Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemiaThe Journal of Pathology · 2026
3. Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languagesJournal of Medical Genetics · 2026
4. Mapping the mRS Scores Into the EQ-5D-5L in Patients With Ischemic Stroke.2026
5. Preceding Infections and Coagulation Biomarkers in Early-Onset Cryptogenic Ischemic StrokeStroke · 2026
6. CTP-Free Method for Automated Lesion Water Uptake in Acute Ischemic StrokeAmerican Journal of Neuroradiology · 2026
7. Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation2026
8. Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping ReviewInternational Journal of Neonatal Screening · 2025
9. Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping ReviewInternational Journal of Neonatal Screening · 2025
10. Cost-benefit analysis of advanced CBCT imaging: Incremental costs and savingsRadiotherapy and Oncology · 2025
11. Molecular Profiling Reveals Novel Gene Fusions and Genetic Markers for Refined Patient Stratification in Pediatric Acute Lymphoblastic LeukemiaModern Pathology · 2025
12. A rapid whole-blood adenosine triphosphate secretion test can be used to exclude platelet-dense granule deficiencyJournal of Thrombosis and Haemostasis · 2025
13. Immunothrombosis in Acute Ischemic StrokeStroke · 2024
14. Hallmarks of a genomically distinct subclass of head and neck cancerNature Communications · 2024
15. Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signalingProceedings of the National Academy of Sciences · 2024
16. Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD VariantsJCO Precision Oncology · 2024
17. Hallmarks of a Genomically Distinct Subclass of Head and Neck Cancer2024
18. Rotating bending fatigue behaviour and quasi‐static tensile properties of Wire Arc Additively Manufactured 308L stainless steelce/papers · 2023
19. Performance of a novel melting curve-based qPCR assay for malaria parasites in routine clinical practice in non-endemic settingMalaria Journal · 2023
20. PersonALL: a genetic scoring guide for personalized risk assessment in pediatric B-cell precursor acute lymphoblastic leukemiaBritish Journal of Cancer · 2023