Steven A. McCarroll

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

De novo mutations in schizophrenia implicate synaptic networks

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Defective Gene Detective Identifying genes that give rise to diseases is one of the major goals of sequencing human genomes. However, putative loss-of-function genes, which are ...

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...

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

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