Verónica Mericq G

This study detects low-level mosaic variants in blood DNA from individuals with congenital hyperinsulinism using tNGS and confirms them with ddPCR.

The paper develops a joint statistical model to show that higher Mapuche genetic ancestry and accelerating BMI trajectories independently increase the likelihood of early menarche in admixed girls.

The paper identifies genetic variants associated with pubertal stage transitions and BMI using joint models in a Latino cohort, finding 43 novel associations and links between Native American ancestry and earlier Tanner 2 stage onset in boys.

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

This study conducts GWAS on BMI and related traits in admixed Chilean children, identifying genetic variants associated with BMI and age at adiposity rebound, and highlighting differences by Native American ancestry.