95 results on '"Hoen, Peter A. C."'
Search Results
2. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
3. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
4. Drug repurposing for rare: progress and opportunities for the rare disease community
5. A multi-omics data analysis workflow packaged as a FAIR Digital Object
6. PANDORA v2.0: Benchmarking peptide-MHC II models and software improvements
7. Ten quick tips for building FAIR workflows
8. A Multi-omics Data Analysis Workflow Packaged as a FAIR Digital Object
9. Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
10. Entropy and Variability: A Second Opinion by Deep Learning
11. Computational approaches for network-based integrative multi-omics analysis
12. Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report
13. PANDORA: A Fast, Anchor-Restrained Modelling Protocol for Peptide: MHC Complexes
14. FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
15. A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients
16. Federated Networks for Distributed Analysis of Health Data
17. The de novo FAIRification process of a registry for vascular anomalies
18. Benchmarking deep learning splice prediction tools using functional splice assays
19. Experimental Design and Quality Control of Next-Generation Sequencing Experiments
20. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
21. Optimized Whole Genome Association Scanning for Discovery of HLA Class I-Restricted Minor Histocompatibility Antigens
22. Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing
23. Bayesian Network Classifiers for Time-Series Microarray Data
24. Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1
25. Characterisation of transcription factor profiles in polycystic kidney disease (PKD): identification and validation of STAT3 and RUNX1 in the injury/repair response and PKD progression
26. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
27. Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics
28. Drug prioritization using the semantic properties of a knowledge graph
29. Annotating Transcriptional Effects of Genetic Variants in Disease‐Relevant Tissue: Transcriptome‐Wide Allelic Imbalance in Osteoarthritic Cartilage
30. Selective glucocorticoid receptor modulation prevents and reverses non-alcoholic fatty liver disease in male mice
31. Strap associates with Csde1 and affects expression of select Csde1-bound transcripts
32. Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model
33. Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells
34. Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type
35. Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors
36. Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
37. Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
38. Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line
39. The distinct transcriptomes of slow and fast adult muscles are delineated by noncoding RNAs
40. Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne
41. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy
42. Systematic genomic and translational efficiency studies of uveal melanoma
43. An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites
44. Meta-analysis of polycystic kidney disease expression profiles defines strong involvement of injury repair processes
45. Huntington’s disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer’s disease
46. Identifying a gene expression signature of cluster headache in blood
47. Identification of context-dependent expression quantitative trait loci in whole blood
48. Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer
49. Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington’s disease peripheral blood samples
50. Consistency of biological networks inferred from microarray and sequencing data
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