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Amlodipine limits microglia activation and cognitive dysfunction in aged hypertensive mice2023 Journal of Hypertension article Neuroscience Neuroinflammation and Neurodegeneration Mechanisms Open access
Daniëlle Kerkhofs, Robin Helgers, Denise J. H. P. Hermes, H.P. Steinbusch, Helma van Essen, Peter J. A. Leenders, +5 more
32citations -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
Combining Knowledge About Metabolic Networks and Single-Cell Data with Maximum Entropy2025 conference-paper Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Carola Sophia Heinzel, Johann F. Jadebeck, Elisabeth Zelle, Johannes Seiffarth, Katharina Nöh
0citations -
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants2021 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katja Kloth, Bernarda Lozić, Julia Tagoe, Mariëtte J.V. Hoffer, Amelie T. van der Ven, Hölger Thiele, +6 more
28citations -
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariëtte J.V. Hoffer, Cindy Melotte, Arie van Haeringen, +2 more
1citations -
ATR-16 syndrome: mechanisms linking monosomy to phenotype2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Christian Babbs, Jill M. Brown, Sharon W. Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, +7 more
10citations -
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study2022 Cell Reports Medicine article Medicine Diabetes, Cardiovascular Risks, and Lipoproteins Open access cited by 1 patent
Agata Wesolowska‐Andersen, Caroline Brorsson, Roberto Bizzotto, Andrea Mari, Andrea Tura, Robert Wilhelm Koivula, +54 more
94citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
Distinct Effects of Inflammation on Cytochrome P450 Regulation and Drug Metabolism: Lessons from Experimental Models and a Potential Role for Pharmacogenetics2020 Genes article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Laura M. de Jong, Wim Jiskoot, Jesse Joachim Swen, Martijn L. Manson
122citations -
From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C192023 Frontiers in Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Lonneke J. Graansma, Qinglian Zhai, Loes Busscher, Roberta Menafra, Redmar R. van den Berg, Susan L. Kloet, +1 more
17citations -
Subcortical Volume Trajectories across the Lifespan: Data from 18,605 healthy individuals aged 3-90 years2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Dementia and Cognitive Impairment Research Open access
Danai Dima, Efstathios Papachristou, Amirhossein Modabbernia, Gaelle Eve Doucet, Ingrid Agartz, Moji Aghajani, +93 more
14citations -
B78-03 AI-Based Quantitative CT Can Characterize Structural Heterogeneity in Pi*ZZ Alpha-1 Antitrypsin Deficiency2026 American Journal of Respiratory and Critical Care Medicine article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research
Tjeerd van der Veer, C Timmer, J van der Heijden, J.-P. Charbonnier, Emily F.A. van ’t Wout, Harm A.W.M. Tiddens
0citations -
FROG Analysis Ensures the Reproducibility of Genome Scale Metabolic Models2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Karthik Raman, Miroslav Kratochvíl, Brett G. Olivier, Matthias König, Pratyay Sengupta, Dinesh Kumar Kuppa Baskaran, +85 more
11citations -
Improved Prediction of CYP2D6 Catalyzed Drug Metabolism by Taking Variant Substrate Specificities and Novel Polymorphic Haplotypes into Account2025 Clinical Pharmacology & Therapeutics article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Inger Johansson, Emmanouella M. Xanthopoulou, Yitian Zhou, Anabel Sanchez‐Spitman, Maaike van der Lee, Birgit Malene Wollmann, +6 more
8citations