Area of research
Genetics · Psychiatry and Mental health
Research interest
Research focused on Genetics and Genome-wide association study, with related work in Mutation rate, Disease, Variation (astronomy). Notable publications include 'An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People', 'Long Runs of Homozygosity Are Enriched for Deleterious Variation', and 'Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in...'.
Cohort Profile Update: The Heinz C. Prechter Longitudinal Study of Bipolar Disorder
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
A survey of functional dyspepsia in 361,360 individuals: Phenotypic and genetic cross‐disease analyses
First mitochondrial genome-wide association study with metabolomics
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
Detecting significant genotype–phenotype association rules in bipolar disorder: market research meets complex genetics
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests
Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder
Long Runs of Homozygosity Are Enriched for Deleterious Variation
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants