Papers matching “actionable genetic variants” 39
Not finding it? Sign in to also search OpenAlex live.
-
Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting2023 European Urology Open Science article Medicine Prostate Cancer Treatment and Research Open access
Niven Mehra, Iris S. H. Kloots, Michiel Vlaming, Shafak Aluwini, Els Dewulf, Daniela E. Oprea‐Lager, +33 more
10citations -
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Andrew Anand Brown, Juan J. Fernandez-Tajes, Mun‐Gwan Hong, Caroline Brorsson, Robert Wilhelm Koivula, David Davtian, +93 more
44citations -
Long‐Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Sumudu Rangika Samarasinghe, Andrea Gaedigk, Jesse Joachim Swen, Henk‐Jan Guchelaar, Shivashankar Hiriyur Nagaraj
6citations -
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder2021 Annals of Clinical and Translational Neurology article Neuroscience Genetic Neurodegenerative Diseases Open access
Tanja Schmitz‐Hübsch, Silke Lux, Peter Bauer, Alexander Ulrich Brandt, Elena Schlapakow, Susanne Greschus, +22 more
21citations -
Pharmacogenetic Panel Testing: A Review of Current Practice and Potential for Clinical Implementation2024 The Annual Review of Pharmacology and Toxicology review Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Romy Mosch, Maaike van der Lee, Henk‐Jan Guchelaar, Jesse Joachim Swen
21citations -
Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Ana Viñuela, Andrew Anand Brown, Juan Fernandez, Mun‐Gwan Hong, Caroline Brorsson, Robert Wilhelm Koivula, +52 more
6citations -
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
0citations -
Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
0citations -
Minimising Adverse Drug Reactions and Verifying Economic Legitimacy-Pharmacogenomics Implementation in Children (MARVEL- PIC): protocol for a national randomised controlled trial of pharmacogenomics implementation2024 BMJ Open article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Rachel K. Conyers, Andreas Halman, Claire Moore, Tayla Stenta, Ben Felmingham, Lane Collier, +9 more
10citations -
Multinational cost-utility analysis of panel-based pharmacogenetics-guided treatment of patients enrolled in the U-PGx PREPARE study2025 EClinicalMedicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Vasileios Fragoulakis, Jesse Joachim Swen, Margarita-Ioanna Koufaki, Kathrin Blagec, Tanja Blagus, Stefan Böhringer, +35 more
9citations -
Genome-Wide Meta-Analysis Identifies Variants in DSCAM and PDLIM3 That Correlate with Efficacy Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Sunitinib
Meta H.M. Diekstra, Jesse Joachim Swen, Loes F.M. van der Zanden, Sita H. H. M. Vermeulen, Epie Boven, Ron H.J. Mathijssen, +20 more
7citations -
Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials2022 The Lancet Diabetes & Endocrinology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Adem Y. Dawed, Andrea Mari, Andrew Anand Brown, Timothy James McDonald, Lin Li, Shuaicheng Wang, +79 more
129citations -
Pharmacogenomics of GLP-1 Receptor Agonists: A genome wide analysis of observational data and large randomized controlled trials2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Adem Y. Dawed, Andrea Mari, Timothy James McDonald, Lin Li, Shuaicheng Wang, Mun‐Gwan Hong, +14 more
8citations -
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Yolande van Bever, Hennie T. Brüggenwirth, Katja P. Wolffenbuttel, Arianne B. Dessens, Irene A.L. Groenenberg, Maarten F. C. M. Knapen, +9 more
18citations -
Connectivity among leatherback turtle populations in the Indian Ocean and West Pacific: a new management unit proposed in Sumatra, Indonesia2025 Frontiers in Marine Science article Environmental Science Turtle Biology and Conservation Open access
Maslim As‐singkily, Peter H. Dutton, Venus van Hoof, Meriussoni Zai, Murniadi, Reindert Nijland, +1 more
1citations