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Author Details
Full Name
Peter A C 't Hoen
Affiliation
Radboud University Medical Center
ORCID
Career Start Year
1998
Papers
199
H Index
53
Expertise
CM4AI Collaborator
Timothy Clark (CM4AI)
PMID
Paper Title
Journal Title
Published Year
36744868
A transcriptome atlas of leg muscles from healthy human volunteers reveals molecular and cellular signatures associated with muscle location.
Elife
2023
35818126
A powerful global test for spliceQTL effects.
Biom J
2023
38089575
Quantifying the deformability of malaria-infected red blood cells using deep learning trained on synthetic cells.
iScience
2023
37768885
Ten quick tips for building FAIR workflows.
PLoS Comput Biol
2023
37280537
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics
2023
37200862
Block or degrade? Balancing on- and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1.
Mol Ther Nucleic Acids
2023
36744868
A transcriptome atlas of leg muscles from healthy human volunteers reveals molecular and cellular signatures associated with muscle location.
Elife
2023
36853713
Quantitative analysis of myofiber type composition in human and mouse skeletal muscles.
STAR Protoc
2023
37768885
Ten quick tips for building FAIR workflows.
PLoS Comput Biol
2023
38089575
Quantifying the deformability of malaria-infected red blood cells using deep learning trained on synthetic cells.
iScience
2023
35818126
A powerful global test for spliceQTL effects.
Biom J
2023
37280537
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
BMC Genomics
2023
37200862
Block or degrade? Balancing on- and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1.
Mol Ther Nucleic Acids
2023
36853713
Quantitative analysis of myofiber type composition in human and mouse skeletal muscles.
STAR Protoc
2023
35328504
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
Int J Mol Sci
2022
36310597
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.
Front Mol Biosci
2022
35907790
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.
BMC Genomics
2022
35619705
PANDORA: A Fast, Anchor-Restrained Modelling Protocol for Peptide: MHC Complexes.
Front Immunol
2022
35418585
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
Sci Data
2022
36517834
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.
Orphanet J Rare Dis
2022
36551168
Entropy and Variability: A Second Opinion by Deep Learning.
Biomolecules
2022
36452456
Computational approaches for network-based integrative multi-omics analysis.
Front Mol Biosci
2022
35274098
A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.
NAR Genom Bioinform
2022
35328504
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
Int J Mol Sci
2022
35418585
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
Sci Data
2022
35619705
PANDORA: A Fast, Anchor-Restrained Modelling Protocol for Peptide: MHC Complexes.
Front Immunol
2022
36551168
Entropy and Variability: A Second Opinion by Deep Learning.
Biomolecules
2022
36517834
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.
Orphanet J Rare Dis
2022
36452456
Computational approaches for network-based integrative multi-omics analysis.
Front Mol Biosci
2022
35907790
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.
BMC Genomics
2022
36310597
Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.
Front Mol Biosci
2022
35274098
A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.
NAR Genom Bioinform
2022
32127641
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Leukemia
2021
32127641
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Leukemia
2021
33998808
Personalized Proteome: Comparing Proteogenomics and Open Variant Search Approaches for Single Amino Acid Variant Detection.
J Proteome Res
2021
33942434
Benchmarking deep learning splice prediction tools using functional splice assays.
Hum Mutat
2021
34250945
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
J Neuromuscul Dis
2021
33500551
Cell type-specific changes in transcriptomic profiles of endothelial cells, iPSC-derived neurons and astrocytes cultured on microfluidic chips.
Sci Rep
2021
34334415
How 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 Dis
2021
34454078
De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.
J Biomed Inform
2021
34660512
Federated Networks for Distributed Analysis of Health Data.
Front Public Health
2021
34481493
The de novo FAIRification process of a registry for vascular anomalies.
Orphanet J Rare Dis
2021
34475573
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Nat Genet
2021
33500551
Cell type-specific changes in transcriptomic profiles of endothelial cells, iPSC-derived neurons and astrocytes cultured on microfluidic chips.
Sci Rep
2021
34660512
Federated Networks for Distributed Analysis of Health Data.
Front Public Health
2021
34481493
The de novo FAIRification process of a registry for vascular anomalies.
Orphanet J Rare Dis
2021
34454078
De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.
J Biomed Inform
2021
34475573
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
Nat Genet
2021
33942434
Benchmarking deep learning splice prediction tools using functional splice assays.
Hum Mutat
2021
34250945
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
J Neuromuscul Dis
2021
1 - 50 of 398
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