Maria Pina Concas

article 2025

Uncovering rare variants in Endometriosis and associated infertility: Insights from an Italian Whole-Exome Sequencing study

·doi:10.1016/j.jri.2025.104614

other 2023

Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus

Nature human behaviour ·doi:10.1038/s41562-023-01528-6

Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified 43 genomic loci a…

article 2023

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

Biomedicines ·doi:10.3390/biomedicines11082122

Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approa…

2016

Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Nature genetics ·doi:10.1038/ng.3698

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, …