Stephanie Beth Seminara

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

Genome-wide analysis identifies 66 variants underlying anatomical variation in human neuroendocrine structures and reveals links to testosterone

This study identifies 66 genetic variants linked to neuroendocrine structure volumes and links some to testosterone levels using UK Biobank data.

POU6F2 mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

The paper identifies POU6F2 mutations in IHH patients, showing isoform1 regulates GnRH expression and variants disrupt this function, contributing to pubertal failure.

The genetic architecture of sporadic and recurrent miscarriage

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length

This study performs a GWAS meta-analysis of menstrual cycle length in European women, confirming the FSHB locus association and identifying four novel signals linked to the HPG axis.