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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 GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more
14citations -
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 -
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 -
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access
Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more
1citations -
Genome- and transcriptome-wide association summary statistics for outcome from traumatic brain injury2022 Zenodo (CERN European Organization for Nuclear Research) dataset Medicine Traumatic Brain Injury Research Open access
Mart Kals, Kevin Kunzmann, Livia Parodi, Farid Radmanesh, Lindsay Wilson, Saef Izzy, +14 more
0citations -
The association between lymphocyte mitochondrial DNA abundance and Stroke: a combination of multivariable-adjusted survival and mendelian randomization analyses2021 medRxiv preprint 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
0citations