Joanne M. Murabito

Erythrocyte Count, Anemia, and the Human Natural Lifespan Limit:Evidence from the Long Life Family Study

The paper examines the relationship between erythrocyte count and mortality in older adults, finding a critical threshold below which mortality risk sharply increases.

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

This study identifies 15 genetic loci associated with muscle weakness in older adults through a large meta-analysis, revealing new pathways linked to aging and health outcomes.

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

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

GWAS of epigenetic ageing rates in blood reveals a critical role for TERT

This study identifies genetic variants associated with epigenetic age acceleration and shows TERT's role in regulating the DNA methylation clock.