Biography | Employment | Publications

Selected senior author publications only (in chronological order)

Please see research section for more details or my google scholar page for all publications

1 / Stankovic et al, Nature (In Press)

‘Genetic links between ovarian ageing, cancer risk and de novo mutation rates' (link)

3 / Zhao et al, Nature Genetics (2024)

‘Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease' (link)

5 / Shekari et al, Nature Medicine (2023)

'Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency' (link)

7 / Lam et al, Nature (2021)

‘MC3R links nutritional state to childhood growth and the timing of puberty' (link)

9 / Pirastu et al, Nature Genetics (2021)

‘Genetic analyses identify widespread sex-differential participation bias’ (link)

11 / Thompson et al, Nature (2019)

‘Genetic predisposition to mosaic Y chromosome loss in blood' (link)

13 / Warrington et al, Nature Genetics (2019)

‘Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors' (link)

15 / Day et al, Nature Genetics (2017)

‘Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk' (link)

17 / Day et al, Nature Genetics (2016)

‘Physical and neurobehavioral determinants of reproductive onset and success' (link)

2 / Kentistou et al, Nature Genetics

(2024)

'Understanding the genetic complexity of puberty timing across the allele frequency spectrum' (link)

4 / Liu et al, Nature (2024)

'Genetic drivers and cellular selection of female mosaic X chromosome loss' (link)

6 / Ruth et al, Nature (2021)

'Genetic insights into the biological mechanisms governing human ovarian ageing' (link)

8 / Ruth et al, Nature Medicine (2020)

'Using human genetics to understand the disease impacts of testosterone in men and women' (link)

10 / Ganna et al, Science (2019)

'Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior' (link)

12 / Wright et al, Nature Genetics (2017)

'Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility' (link)

14 / Horikoshi et al, Nature (2016)

'Genome-wide associations for birth weight and correlation with adult disease' (link)

16 / Day et al, Nature Genetics (2015)

'Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair' (link)

18 / Perry et al, Nature (2014)

'Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche' (link)