Steve Eric Humphries

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion

This study identifies COPI coatomer subunits that regulate LDL receptor activity, apoB secretion, and hepatic lipid storage, with genetic variants linked to elevated LDL-C levels.

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

The overlap of genetic susceptibility to schizophrenia and cardiometabolic disease can be used to identify metabolically different groups of individuals

The paper identifies metabolically distinct groups using genetic overlap between schizophrenia and cardiometabolic disease in two cohorts.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.