Genetic and Genomic Medicine
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The missing link between genetic association and regulatory function
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The Genetic Risk of Gestational Diabetes in South Asian women
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Phenome-wide Mendelian randomization study of plasma triglycerides and 2,600 disease traits
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Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies
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Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
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An atlas of associations between polygenic risk scores from across the human phenome and circulating metabolic biomarkers
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Mixed ancestry analysis of whole-genome sequencing identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
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Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
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Genomic Landscape of Lymphatic Malformations: A Case Series and Response to the PI3Kα Inhibitor Alpelisib in an N-of-One Clinical Trial
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