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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression2021 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access cited by 2 patents
Urmo Võsa, Annique Claringbould, Harm-Jan Westra, Marc Jan Bonder, Patrick Deelen, Biao Zeng, +88 more
2,569citations -
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information2020 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Sebastian Guelfi, Karishma D’Sa, Juan Antonio Botía, Jana Vandrovcová, Regina Hertfelder Reynolds, David Zhang, +94 more
39citations -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more
20citations -
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy2023 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Richard J.L.F. Lemmers, Russell J. Butterfield, Patrick J. van der Vliet, Jan De Bleecker, Ludo van der Pol, Diane Marie Dunn, +17 more
19citations -
Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data2022 The Pharmacogenomics Journal article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Alireza Tafazoli, Maaike van der Lee, Jesse Joachim Swen, Anna Zeller, Natalia Wawrusiewicz‐Kurylonek, Hailiang Mei, +4 more
14citations -
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands2023 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Cleft Lip and Palate Research Open access
Lisca Wurfbain, Inge L Cox, M. F. van Dooren, Augusta M.A. Lachmeijer, Virginie J. M. Verhoeven, Johanna M. van Hagen, +8 more
9citations -
A translational approach towards understanding brain waste clearance in cerebral amyloid angiopathy2024 European Heart Journal article Medicine Intracerebral and Subarachnoid Hemorrhage Research Open access
Susanne J. van Veluw, Helene Benveniste, Matthias J.P. van Osch, Erik N.T.P. Bakker, Roxana Octavia Carare, Steven Mark Greenberg, +5 more
4citations -
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients2026 European Journal of Human Genetics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Madeline Gorny, Katja Susanne Just, Tim Krüger, Matthias Begemann, Florian Kraft, Thomas Eggermann, +2 more
3citations -
Optimized summary-statistic-based single-cell eQTL meta-analysis2025 Scientific Reports review Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Maryna Korshevniuk, Harm-Jan Westra, Roy Oelen, Monique G.P. van der Wijst, Lude Franke, Marc Jan Bonder, +31 more
3citations -
The Nudging Machine: Exploring Expressive Touch-Based Movement for Abstract Robots2026 ACM/IEEE International Conference on Human-Robot Interaction (HRI) conference-paper Psychology Social Robot Interaction and HRI Open access
Nataliia Kaminskaia, Rob Saunders, Kim Baraka, Somaya Ben Allouch
1citations -
Leveraging prompt-driven generative AI for systematic reviews in digital psychiatry: A stage-matched comparative proof-of-concept for healthcare researchers and clinicians
Karisa B. Parkington, Jithin Thekkelkuthiyathottil Joseph, Katie Musleh, Marianne Rouleau-Tang, Annabelle Persaud, Alice Rueda, +14 more
0citations