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Common disease signatures from gene expression analysis in Huntington's disease human blood and brain.
- Published in:
- 2016
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- Publication type:
- journal article
PANDORA v2.0: Benchmarking peptide-MHC II models and software improvements.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1285899
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- Publication type:
- Article
Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.
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- Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00102
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- Publication type:
- Article
Systematic genomic and translational efficiency studies of uveal melanoma.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178189
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- Publication type:
- Article
Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer.
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- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0165059
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- Publication type:
- Article
Roux-en-Y Gastric Bypass Surgery, but Not Calorie Restriction, Reduces Plasma Branched-Chain Amino Acids in Obese Women Independent of Weight Loss or the Presence of Type 2 Diabetes.
- Published in:
- Diabetes Care, 2014, v. 37, n. 12, p. 3150, doi. 10.2337/dc14-0195
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- Publication type:
- Article
Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-865
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- Publication type:
- Article
In silico discovery and experimental validation of new protein-protein interactions.
- Published in:
- Proteomics, 2011, v. 11, n. 5, p. 843, doi. 10.1002/pmic.201000398
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- Publication type:
- Article
Serum protein profiling in mice: Identification of Factor XIIIa as a potential biomarker for muscular dystrophy.
- Published in:
- Proteomics, 2008, v. 8, n. 8, p. 1552, doi. 10.1002/pmic.200700857
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- Publication type:
- Article
Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 3, p. 548, doi. 10.1038/mt.2008.205
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- Publication type:
- Article
Network-based integrative multi-omics approach reveals biosignatures specific to COVID-19 disease phases.
- Published in:
- Frontiers in Molecular Biosciences, 2024, p. 01, doi. 10.3389/fmolb.2024.1393240
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- Publication type:
- Article
Entropy and Variability: A Second Opinion by Deep Learning.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 12, p. 1740, doi. 10.3390/biom12121740
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- Publication type:
- Article
SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 12, p. 1, doi. 10.1093/nar/gkv242
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- Publication type:
- Article
Assessing the translational landscape of myogenic differentiation by ribosome profiling.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 9, p. 4408, doi. 10.1093/nar/gkv281
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- Publication type:
- Article
Integrated analysis of microRNA and mRNA expression: adding biological significance to microRNA target predictions.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 15, p. e146, doi. 10.1093/nar/gkt525
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- Publication type:
- Article
Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18716-x
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- Publication type:
- Article
Insulin Signaling as a Key Moderator in Myotonic Dystrophy Type 1.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01229
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- Publication type:
- Article
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03059-3
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- Publication type:
- Article
The distinct transcriptomes of slow and fast adult muscles are delineated by noncoding RNAs.
- Published in:
- FASEB Journal, 2018, v. 32, n. 3, p. 1579, doi. 10.1096/fj.201700861R
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- Publication type:
- Article
DMD transcript imbalance determines dystrophin levels.
- Published in:
- FASEB Journal, 2013, v. 27, n. 12, p. 4909, doi. 10.1096/fj.13-232025
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- Publication type:
- Article
Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.
- Published in:
- FASEB Journal, 2013, v. 27, n. 6, p. 2484, doi. 10.1096/fj.12-224170
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- Publication type:
- Article
Cell-type specific regulation of myostatin signaling.
- Published in:
- FASEB Journal, 2012, v. 26, n. 4, p. 1462, doi. 10.1096/fj.11-191189
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- Publication type:
- Article
Search for Early Pancreatic Cancer Blood Biomarkers in Five European Prospective Population Biobanks Using Metabolomics.
- Published in:
- Endocrinology, 2019, v. 160, n. 7, p. 1731, doi. 10.1210/en.2019-00165
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- Publication type:
- Article
Benchmarking deep learning splice prediction tools using functional splice assays.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 799, doi. 10.1002/humu.24212
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- Publication type:
- Article
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1797, doi. 10.1002/humu.23792
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- Publication type:
- Article
Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients.
- Published in:
- Proteomics - Clinical Applications, 2016, v. 10, n. 3, p. 290, doi. 10.1002/prca.201500044
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- Publication type:
- Article
Fibronectin is a serum biomarker for Duchenne muscular dystrophy.
- Published in:
- Proteomics - Clinical Applications, 2014, v. 8, n. 3/4, p. 269, doi. 10.1002/prca.201300072
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- Publication type:
- Article
Affinity proteomics within rare diseases: a BIO- NMD study for blood biomarkers of muscular dystrophies.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 7, p. 918, doi. 10.15252/emmm.201303724
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- Publication type:
- Article
Determining the quality and complexity of nextgeneration sequencing data without a reference genome.
- Published in:
- Genome Biology, 2014, v. 15, n. 12, p. 327, doi. 10.1186/s13059-014-0555-3
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- Publication type:
- Article
Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1349, doi. 10.1038/ejhg.2014.281
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- Publication type:
- Article
What? Where? Which? WWW Resources for Geneticists: Bioinformatics for geneticists: a bioinformatics primer for the analysis of genetic data.
- Published in:
- 2007
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- Publication type:
- Book Review
RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.
- Published in:
- BMC Biology, 2019, v. 17, n. 1, p. 1, doi. 10.1186/s12915-019-0674-0
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- Publication type:
- Article
Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy.
- Published in:
- PLoS Computational Biology, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pcbi.1002258
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- Publication type:
- Article
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.
- Published in:
- Journal of Molecular Medicine, 2019, v. 97, n. 12, p. 1643, doi. 10.1007/s00109-019-01852-3
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- Publication type:
- Article
A powerful global test for spliceQTL effects.
- Published in:
- Biometrical Journal, 2023, v. 65, n. 1, p. 1, doi. 10.1002/bimj.202100123
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- Publication type:
- Article
Drug prioritization using the semantic properties of a knowledge graph.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42806-6
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- Publication type:
- Article
Aging as Accelerated Accumulation of Somatic Variants: Whole-Genome Sequencing of Centenarian and Middle-Aged Monozygotic Twin Pairs.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 6, p. 1026, doi. 10.1017/thg.2013.73
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- Publication type:
- Article
Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02114-z
- By:
- Publication type:
- Article
Evaluation of commonly used analysis strategies for epigenome- and transcriptome-wide association studies through replication of large-scale population studies.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1878-x
- By:
- Publication type:
- Article
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 20, p. 3857, doi. 10.1007/s00018-018-2842-8
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- Publication type:
- Article
RNA sequencing: from tag-based profiling to resolving complete transcript structure.
- Published in:
- Cellular & Molecular Life Sciences, 2014, v. 71, n. 18, p. 3537, doi. 10.1007/s00018-014-1637-9
- By:
- Publication type:
- Article
Overactive bone morphogenetic protein signaling in heterotopic ossification and Duchenne muscular dystrophy.
- Published in:
- Cellular & Molecular Life Sciences, 2013, v. 70, n. 3, p. 407, doi. 10.1007/s00018-012-1054-x
- By:
- Publication type:
- Article
Tbx2 and Tbx3 induce atrioventricular myocardial development and endocardial cushion formation.
- Published in:
- Cellular & Molecular Life Sciences, 2012, v. 69, n. 8, p. 1377, doi. 10.1007/s00018-011-0884-2
- By:
- Publication type:
- Article
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.
- Published in:
- BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08771-7
- By:
- Publication type:
- Article
Metabolomic predictors of phenotypic traits can replace and complement measured clinical variables in population-scale expression profiling studies.
- Published in:
- BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08771-7
- By:
- Publication type:
- Article
Insight in Genome-Wide Association of Metabolite Quantitative Traits by Exome Sequence Analyses.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 1, p. 1, doi. 10.1371/journal.pgen.1004835
- By:
- Publication type:
- Article
DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003594
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- Publication type:
- Article
Transcriptome and genome sequencing uncovers functional variation in humans.
- Published in:
- Nature, 2013, v. 501, n. 7468, p. 506, doi. 10.1038/nature12531
- By:
- Publication type:
- Article
PASSion: a pattern growth algorithm-based pipeline for splice junction detection in paired-end RNA-Seq data.
- Published in:
- Bioinformatics, 2012, v. 28, n. 4, p. 479, doi. 10.1093/bioinformatics/btr712
- By:
- Publication type:
- Article