Showing the latest 331 publications
Publications 31-40 of 331
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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
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Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila
Agrawal, N., Lawler, K., Davidson, C., Keogh, J., Legg, R., et al.
PLoS biology
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Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Ritchie, S., Lambert, S., Arnold, M., Teo, S., Lim, S., Scepanovic, P., et al.
Nature Metabolism