Journal Article (3313)
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Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation. Journal of Allergy and Clinical Immunology (2026)
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dicast: a machine learning method for accurate structural variant detection from short-read sequencing data. Genome Biology 27, 292 (2026)
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RCoxNet: A Deep Learning Framework Integrating Random Walk with Restart, Mutation, and Clinical Data for Cancer Survival Prediction. Journal of Computational Biology (2026)
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Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI. European Journal of Human Genetics (2026)
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Genetic Deletion of Cis-Regulatory Elements to Dissect the Function of the Non-coding Genome in human Preimplantation Models. Journal of Visualized Experiments (2026)
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Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing. Science Translational Medicine 18 (2026)
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Metabolic adaptation enabling D-xylose assimilation via the entner-doudoroff pathway in glycolysis-impaired Escherichia coli strains. Metabolic Engineering 97, 102504, p. 102504 (2026)
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Ortholog-specific Spatial Expression of Vanins in the Respiratory Tract of Horses. Journal of Histochemistry & Cytochemistry (2026)
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Human brain organoids record the passage of time over multiple years. Nature (2026)
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TandemTwister: scalable genotyping and advanced visualization of tandem repeats. NAR: Genomics and Bioinformatics (2026)
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Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk. Nature Genetics (2026)
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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia. The American Journal of Human Genetics (2026)
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Tissue origins of the plasma proteomic response to glucose ingestion in humans. Diabetologia (2026)
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Context-aware sequence-to-function model of human gene regulation. Nature Communications 17, 6200 (2026)
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DNAviWEB: sequencing-free clinical screening of liquid biopsies. Nucleic Acids Research (2026)
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A developmental shift in glucocorticoid receptor expression preserves glucocorticoid sensitivity in the adult suprachiasmatic nucleus. PLOS Biology 24, p. e3003870 (2026)
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Exercise Resistance in Obese MaleNZOMice Manifests as Local Muscle Remodelling Without Glycaemic Improvements. Diabetes, Obesity and Metabolism (2026)
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A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance. Advanced Science (2026)
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metilene3: identifying DMRs across multiple conditions with auto-classification. Nature Communications 17, 5848 (2026)
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Integrative multi-omics analysis of growth plate regulation underlying body size in miniature pigs. Communications Biology 9, 875 (2026)