Patrick F. Sullivan

Analysis of protein-coding genetic variation in 60,706 humans

Quantifying prion disease penetrance using large population control cohorts

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

Clonal hematopoiesis with somatic mutations is readily detected by means of DNA sequencing, is increasingly common as people age, and is associated with increased risks of hemat...

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitat...

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways