Samuel E. Jones

The paper identifies 260 genes associated with sleep phenotypes using rare coding variants from large-scale sequencing data, revealing distinct genetic architectures and biological mechanisms across different sleep measurements.

The paper identifies genetic variants associated with diurnal glucose levels and their role in type 2 diabetes risk.

This study identifies genetic associations for multiple sleep disorders and medications in over 1.6 million individuals, revealing shared and unique genetic factors across sleep traits.

This study evaluates if weight loss from a dietary intervention varies by genetic predisposition to higher BMI, finding no significant interaction between polygenic scores and intervention effectiveness.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

The paper identifies regulatory variation at HTR1F associated with sleep apnea risk and arousals, particularly in non-obese individuals.

This study identifies ADRA2A as a major risk locus for Raynaud's syndrome through genome-wide association analysis and functional validation in vascular smooth muscle cells.

This study examines the impact of Mendelian sleep and circadian genetic variants in population cohorts and finds no strong associations with extreme sleep traits, though some variants show minor effects.

The paper identifies genetic risk factors for tuberculosis, including HLA alleles and INPP5A variants, and shows smoking as a lifestyle risk factor.

The paper identifies a genetic variant in SCGB1D2 that increases Lyme disease susceptibility and shows that the wild-type protein inhibits Borrelia burgdorferi growth more effectively than the variant.

The paper shows BMAL1 regulates oligodendroglial maintenance and myelination, which affects sleep, and links this to MS pathology.

The paper identifies KPNB1 and MYL4 as novel risk genes for congenital heart disease through GWAS, eQTL analysis, and functional validation in patient-derived cardiomyocytes.

This paper estimates disease prevalence using genetic risk scores and evaluates methods for robust prevalence estimation across different scenarios.

This study identifies genetic loci associated with daytime napping and finds potential causal links between napping and cardiometabolic traits.

This study identifies 42 genetic loci associated with excessive daytime sleepiness and links them to phenotypic subgroups and related traits.

This study finds that genetic risk scores for insomnia and sleep duration differ between bipolar I and II subtypes, suggesting distinct genetic liabilities.

The paper identifies 57 genomic regions associated with insomnia symptoms, linking them to phototransduction, ubiquitination, and potential causal relationships with coronary heart disease and depression.

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.

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.

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.

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

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 uses Mendelian Randomization to show that higher BMI causally increases the risk of psoriasis and eczema, with a stronger effect on psoriasis.

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.