Author: Alan R. Shuldiner

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Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

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Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

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Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

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Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

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Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US

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