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Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant2021 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Brédart, Antoine De Pauw, Amélie Anota, Anja Tüchler, Julia Dick, A. G. S. Muller, +6 more
11citations -
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 -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report2023 European Heart Journal - Case Reports article Medicine Congenital Heart Disease Studies Open access
Marieke Nederend, J. Lauran Stöger, Anastasia D. Egorova, Daniela Q.C.M. Barge‐Schaapveld, Monique R.M. Jongbloed
1citations -
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease2020 Movement Disorders Clinical Practice article Medicine Lysosomal Storage Disorders Research Open access
Jonas M. den Heijer, Jacobus Johannes van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld
9citations -
Identification of novel genetic variants associated with short stature in a Baka Pygmies population2020 Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Matteo Zoccolillo, Claudia Moia, Sergio Comincini, Davide Cittaro, Dejan Lazarević, Karen A. Pisani, +2 more
11citations -
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD2024 Genome Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Jonathan Emanuel Knikman, Qinglian Zhai, Carin A.T.C. Lunenburg, Linda M. Henricks, Stefan Böhringer, Maaike van der Lee, +22 more
13citations -
Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations2021 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Nutrition, Genetics, and Disease Open access
Danielle E. Haslam, Gina Marie Peloso, Mélanie Guirette, Fumiaki Imamura, Traci M. Bartz, Achilleas Pitsillides, +50 more
12citations -
Contribution of common and rare genetic variants in CEP72 on vincristine‐induced peripheral neuropathy in brain tumour patients2022 British Journal of Clinical Pharmacology article Medicine Cancer Treatment and Pharmacology Open access
Marije J. Klumpers, Annouk C. A. M. Brand, Marina Hakobjan, Giovanna Gattuso, Elisabetta Schiavello, Monica Terenziani, +5 more
9citations -
Genetic variants found in paediatric oncology patients with severe chemotherapy-induced toxicity: A case series2022 Journal of Oncology Pharmacy Practice article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Emma C. Bernsen, LM Hanff, LM Haveman, Bastiaan B.J. Tops, Maaike van der Lee, Jesse Joachim Swen, +2 more
2citations -
Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Rachel M. Brouwer, Marieke Klein, Katrina L. Grasby, Hugo Gerard Schnack, Neda Jahanshad, Jalmar Teeuw, +94 more
11citations