Genetic and Genomic Medicine
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Using Networks and Prior Knowledge to Uncover novel Rare Disease Phenotypes
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Heterozygous variants inPLCG1affect hearing, vision, cardiac, and immune function
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Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome
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Causal associations between plasma proteins and prostate cancer: a Proteome-Wide Mendelian Randomization
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Confirmation of HLA-II associations with TB susceptibility in admixed African samples
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Molecular Feature-Based Classification of Retroperitoneal Liposarcoma: A Prospective Cohort Study
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Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
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A Titin Missense Variant Causes Atrial Fibrillation
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JAK inhibition decreases the autoimmune burden in Down syndrome
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Low-dose chemotherapy combined with delayed immunotherapy in the neoadjuvant treatment of non-small cell lung cancer and dynamic monitoring of the drug response in peripheral blood
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