Showing the latest 455 publications
Publications 151-160 of 455
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Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease
Xu, Y., Vuckovic, D., Ritchie, S., Akbari, P., Jiang, T., Grealey, J., et al.
Cell Genomics
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Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels
Hysi, P., Mangino, M., Christofidou, P., Falchi, M., Karoly, E., Nihr Bioresource Investigators, n., et al.
Metabolites
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OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling
Cartes-Saavedra, B., Macuada, J., Lagos, D., Arancibia, D., Andrés, M., Yu-Wai-Man, P., et al.
Frontiers in Cell and Developmental Biology
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WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
Hu, K., Zatyka, M., Astuti, D., Beer, N., Dias, R., Kulkarni, A., et al.
Journal of Medical Genetics
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Comparison of symptom-based versus self-reported diagnostic measures of anxiety and depression disorders in the GLAD and COPING cohorts
Davies, M., Buckman, J., Adey, B., Armour, C., Bradley, J., Curzons, S., et al.
Journal of Anxiety Disorders
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Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood
Kariotis, S., Jammeh, E., Swietlik, E., Pickworth, J., Rhodes, C., Otero, P., et al.
Nature Communications
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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Johannesen, K., Iqbal, S., Guazzi, M., Mohammadi, N., Pérez-Palma, E., Schaefer, E., et al.
Genetics in Medicine: Official Journal of the American College of Medical Genetics
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Comparison of depression and anxiety symptom networks in reporters and non-reporters of lifetime trauma in two samples of differing severity
Peel, A., Armour, C., Buckman, J., Coleman, J., Curzons, S., Davies, M., et al.
Journal of Affective Disorders Reports
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SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
Jurkute, N., D'Esposito, F., Robson, A., Pitceathly, R., Cordeiro, F., Raymond, F., et al.
Investigative Ophthalmology & Visual Science
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D., Smith, K., Martin, A., Thomas, E., McDonagh, E., et al.
The New England Journal of Medicine