Luca A. Lotta

This study identifies 207 height-associated genes using rare protein-altering variants from over 1.4 million individuals, showing large effect sizes and overlap with Mendelian height syndromes.

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

The paper identifies SLC39A5 as a gene whose loss-of-function variants are associated with reduced type II diabetes risk and improved liver function in metabolic disorders.

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.