Marcus A. Tuke

The paper investigates the phenotypic effects of rare variants in developmental disorder genes in the general population, finding milder related traits in carriers.

This study uses UK Biobank data to assess the penetrance and pathogenicity of rare variants, finding reduced penetrance and variable expressivity for some clinically relevant variants.

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

A common FGF21 allele is associated with lower body fat in the lower body, higher blood pressure, and increased carbohydrate intake in a large human cohort.

This study identifies genetic variants associated with red blood cell distribution width (RDW) in 166,666 UK Biobank volunteers, linking RDW to aging-related pathways and health outcomes.