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Author Details

Peter A C 't Hoen
Radboud University Medical Center
1998
199
53
Timothy Clark (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36744868A transcriptome atlas of leg muscles from healthy human volunteers reveals molecular and cellular signatures associated with muscle location.Elife2023
35818126A powerful global test for spliceQTL effects.Biom J2023
38089575Quantifying the deformability of malaria-infected red blood cells using deep learning trained on synthetic cells.iScience2023
37768885Ten quick tips for building FAIR workflows.PLoS Comput Biol2023
37280537SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.BMC Genomics2023
37200862Block or degrade? Balancing on- and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1.Mol Ther Nucleic Acids2023
36744868A transcriptome atlas of leg muscles from healthy human volunteers reveals molecular and cellular signatures associated with muscle location.Elife2023
36853713Quantitative analysis of myofiber type composition in human and mouse skeletal muscles.STAR Protoc2023
37768885Ten quick tips for building FAIR workflows.PLoS Comput Biol2023
38089575Quantifying the deformability of malaria-infected red blood cells using deep learning trained on synthetic cells.iScience2023
35818126A powerful global test for spliceQTL effects.Biom J2023
37280537SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.BMC Genomics2023
37200862Block or degrade? Balancing on- and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1.Mol Ther Nucleic Acids2023
36853713Quantitative analysis of myofiber type composition in human and mouse skeletal muscles.STAR Protoc2023
35328504Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).Int J Mol Sci2022
36310597Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.Front Mol Biosci2022
35907790Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.BMC Genomics2022
35619705PANDORA: A Fast, Anchor-Restrained Modelling Protocol for Peptide: MHC Complexes.Front Immunol2022
35418585FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.Sci Data2022
36517834Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.Orphanet J Rare Dis2022
36551168Entropy and Variability: A Second Opinion by Deep Learning.Biomolecules2022
36452456Computational approaches for network-based integrative multi-omics analysis.Front Mol Biosci2022
35274098A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.NAR Genom Bioinform2022
35328504Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).Int J Mol Sci2022
35418585FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.Sci Data2022
35619705PANDORA: A Fast, Anchor-Restrained Modelling Protocol for Peptide: MHC Complexes.Front Immunol2022
36551168Entropy and Variability: A Second Opinion by Deep Learning.Biomolecules2022
36517834Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.Orphanet J Rare Dis2022
36452456Computational approaches for network-based integrative multi-omics analysis.Front Mol Biosci2022
35907790Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.BMC Genomics2022
36310597Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.Front Mol Biosci2022
35274098A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.NAR Genom Bioinform2022
32127641Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.Leukemia2021
32127641Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.Leukemia2021
33998808Personalized Proteome: Comparing Proteogenomics and Open Variant Search Approaches for Single Amino Acid Variant Detection.J Proteome Res2021
33942434Benchmarking deep learning splice prediction tools using functional splice assays.Hum Mutat2021
34250945Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.J Neuromuscul Dis2021
33500551Cell type-specific changes in transcriptomic profiles of endothelial cells, iPSC-derived neurons and astrocytes cultured on microfluidic chips.Sci Rep2021
34334415How Patient Organizations Can Drive FAIR Data Efforts to Facilitate Research and Health Care: A Report of the Virtual Second International Meeting on Duchenne Data Sharing, March 3, 2021.J Neuromuscul Dis2021
34454078De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.J Biomed Inform2021
34660512Federated Networks for Distributed Analysis of Health Data.Front Public Health2021
34481493The de novo FAIRification process of a registry for vascular anomalies.Orphanet J Rare Dis2021
34475573Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.Nat Genet2021
33500551Cell type-specific changes in transcriptomic profiles of endothelial cells, iPSC-derived neurons and astrocytes cultured on microfluidic chips.Sci Rep2021
34660512Federated Networks for Distributed Analysis of Health Data.Front Public Health2021
34481493The de novo FAIRification process of a registry for vascular anomalies.Orphanet J Rare Dis2021
34454078De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.J Biomed Inform2021
34475573Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.Nat Genet2021
33942434Benchmarking deep learning splice prediction tools using functional splice assays.Hum Mutat2021
34250945Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.J Neuromuscul Dis2021
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Collaborators

Co-authored papers 53
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Leiden Institute for FAIR and Equitable Science
Co-authored papers 8
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Co-authored papers 6
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Co-authored papers 6