Nadja Makki

Non-coding regulatory variants in adolescent idiopathic scoliosis risk and pathogenesis

Adolescent idiopathic scoliosis is a common pediatric musculoskeletal disease that has significant impacts on childhood quality of life. Recent genome-wide association studies have identified dozens of genetic risk loci and hundreds of risk variants that primarily reside in non-c...

Massively parallel characterization of adolescent idiopathic scoliosis risk variants

ABSTRACT Adolescent idiopathic scoliosis (AIS) is a common pediatric musculoskeletal disorder characterized by lateral spinal curvature, often leading to chronic pain and deformity. While a significant genetic component to AIS is recognized, the functional impact of most associat...