(Full publication list available at: https://scholar.google.com/citations?user=jBCUa64AAAAJ)
Stankovic et al, ‘Genetic links between ovarian ageing, cancer risk and de novo mutation rates' Nature (In Press)
Kentistou et al, 'Understanding the genetic complexity of puberty timing across the allele frequency spectrum' Nature Genetics (2024)
Zhao et al, ‘Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease' Nature Genetics (2024)
Liu et al, 'Genetic drivers and cellular selection of female mosaic X chromosome loss' Nature (2024)
Shekari et al, 'Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency' Nature Medicine (2023)
Lam et al, ‘MC3R links nutritional state to childhood growth and the timing of puberty’ Nature (2021)
Ruth et al, ‘Genetic insights into the biological mechanisms governing human ovarian ageing’ Nature (2021)
Zhao et al, ‘GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health’. Nature Communications (2021)
Pirastu et al, ‘Genetic analyses identify widespread sex-differential participation bias’ Nature Genetics (2021)
Ruth et al, ‘ Using human genetics to understand the disease impacts of testosterone in men and women.’ Nature Medicine (2020)
Thompson et al, ‘Genetic predisposition to mosaic Y chromosome loss in blood’ Nature (2019)
Ganna et al, ‘Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior.’ Science (2019)
Warrington et al, ‘Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.’ Nature Genetics (2019)
Day et al, ‘Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics (2017)
Wright et al, ‘Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. Nature Genetics (2017)
Horikoshi et al, ‘Genome-wide associations for birth weight and correlation with adult disease’ Nature (2016).
Day et al, ‘Physical and neurobehavioral determinants of reproductive onset and success’ Nature Genetics (2016)
Day et al, Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.’ Nature Genetics (2015)
