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Economic evaluation of pharmacogenomic-guided antiplatelet treatment in Spanish patients suffering from acute coronary syndrome participating in the U-PGx PREPARE study
Margarita-Ioanna Koufaki, Vasileios Fragoulakis, Xando Díaz-Villamarín, Kariofyllis Karamperis, Athanassios Vozikis, Jesse Joachim Swen, +4 more
35citations -
Near telomere-to-telomere genome assemblies of two Chlorella species unveil the composition and evolution of centromeres in green algae2024 BMC Genomics article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Bo Wang, Yanyan Jia, Ningxin Dang, Jie Yu, Stephen J. Bush, Shenghan Gao, +6 more
10citations -
Multicenter In-House Evaluation of an Amplicon-Based Next−Generation Sequencing Panel for Comprehensive Molecular Profiling2025 Molecular Diagnosis & Therapy article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Eloisa Jantus Lewintre, Alessandra Rappa, Dina Ruano, Demi van Egmond, Sandra Gallach, Dilce Gozuyasli, +7 more
7citations -
Allele-Specific Digital PCR Enhances Precision and Sensitivity in the Detection and Quantification of Copy Number Alterations in Heterogeneous DNA Samples2025 Clinical Chemistry article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Rogier J. Nell, Mieke Versluis, Willem H. Zoutman, Gregorius P. M. Luyten, Martine Johanna Jager, Pieter A. van der Velden
5citations -
Performance of five metagenomic classifiers for virus pathogen detection using respiratory samples from a clinical cohort2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ellen C. Carbo, Igor A. Sidorov, Anneloes L. van Rijn-Klink, Sander van Boheemen, Hailiang Mei, Pieter Sicco Hiemstra, +4 more
4citations -
Comparison of the performance of two targeted metagenomic virus capture probe-based methods using reference control materials and clinical samples2024 Journal of Clinical Microbiology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Kees Mourik, Igor A. Sidorov, Ellen C. Carbo, David van der Meer, Arnoud Boot, Aloys C.M. Kroes, +3 more
29citations -
Pan-cancer functional analysis of somatic mutations in G protein-coupled receptors2022 Scientific Reports article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Brandon J. Bongers, Marina Gorostiola González, X. Wang, Herman van Vlijmen, Willem Jespers, Hugo Gutiérrez‐de‐Terán, +3 more
18citations -
Performance of Five Metagenomic Classifiers for Virus Pathogen Detection Using Respiratory Samples from a Clinical Cohort2022 Pathogens article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Ellen C. Carbo, Igor A. Sidorov, Anneloes L. van Rijn-Klink, Sander van Boheemen, Hailiang Mei, Pieter Sicco Hiemstra, +4 more
14citations -
Whole‐genome sequencing holds the key to the success of gene‐targeted therapies2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Jerry E. Vockley, Annemieke M Aartsma-Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, +2 more
14citations -
Conserved structured domains in plant non-coding RNA enod40, their evolution and recruitment of sequences from transposable elements2023 NAR Genomics and Bioinformatics article Agricultural and Biological Sciences Plant Molecular Biology Research Open access
Alexander P. Gultyaev, Céline Koster, Diederik Cames van Batenburg, Tom Sistermans, Niels van Belle, Daan Vijfvinkel, +1 more
12citations -
Diagnostic yield of genetic testing in children with short stature: a systematic review2026 European Journal of Endocrinology review Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Renata C. Scalco, Jan W. Schoones, Despoina M. Galetaki, Ana Maria Santillan‐Vasconez, Gabriela J. Kim, Laurana de Polli Cellin, +8 more
10citations -
Symmetric expression of ohnologs encoding conserved antiviral responses in tetraploid common carp suggest absence of subgenome dominance after whole genome duplication2023 Genomics article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Annemiek Blasweiler, Hendrik‐Jan Megens, M.R.G. Goldman, Roni Tadmor‐Levi, Jackie Lighten, Martien A. M. Groenen, +6 more
9citations -
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM92025 Human Genetics and Genomics Advances article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, Davy Cats, +34 more
3citations -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
Generating Chromosome Geometries in a Minimal Cell From Cryo-Electron Tomograms and Chromosome Conformation Capture Maps2021 Frontiers in Molecular Biosciences article Biochemistry, Genetics and Molecular Biology Genomics and Chromatin Dynamics Open access
Benjamin R. Gilbert, Zane R. Thornburg, Vinson Lam, Fatema‐Zahra M. Rashid, John I. Glass, Elizabeth Villa, +2 more
34citations -
Real-world clinical utility of tumor whole-genome sequencing in solid cancers2026 Nature Medicine article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Jeffrey van Putten, Petur Snaebjornsson, Linda J.W. Bosch, Roelof Koster, Paul Roepman, Joseph L. Usset, +10 more
15citations -
PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 2 patents
Milad Shademan, Hailiang Mei, Baziel G.M. van Engelen, Yavuz Ariyürek, Susan L. Kloet, Vered Raz
13citations -
Phylogenomics yields new systematic and taxonomical insights for Lissotriton newts, a genus with a strong legacy of introgressive hybridization2024 Molecular Phylogenetics and Evolution article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Stephanie Koster, Wiesław Babik, J. France, Konstantinos Kalaentzis, Christos Kazilas, Íñigo Martínez-Solano, +2 more
9citations -
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants2021 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +44 more
9citations -
The pathway alteration load is a pan-cancer determinant of outcome of targeted therapies: results from the Drug Rediscovery Protocol (DRUP)2025 ESMO Open article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Karlijn Verkerk, Laurien Joanna Zeverijn, Joris van de Haar, Paul Roepman, Birgit S. Geurts, A C Spiekman, +9 more
5citations -
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene2023 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richa Sharma, Ninad Oak, Wenan Chen, Rose A. Gogal, Martin Kirschner, Fabian Beier, +4 more
5citations