Author: Joel N. Hirschhorn

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Preprints

Interrogation of human hematopoiesis at single-cell and single-variant resolution

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Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

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  • In evolutionary biology: 84
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Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

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  • In genetic and genomic medicine: 18
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

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Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic loci and establishes causal relationships between educational attainment and healthy eating

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Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

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Across-cohort QC analyses of genome-wide association study summary statistics from complex traits

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Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms

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  • In genomics: 3,973
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Clinical and Functional Characterization of Melanocortin 4 Receptor genetic variants in African American and/or Hispanic children with severe early onset obesity.

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Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome

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  • In bioinformatics: 6,827
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Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

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  • In genetics: 3,774
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Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology

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