Elena M. Cabello

Rare LRRFIP1 variants contribute to pathophysiology of severe early-onset scoliosis and common scoliotic phenotypes.

Despite enormous advances in clinical genomics, idiopathic scoliosis remains an enigmatic condition with poorly understood genetic and pathophysiological underpinnings impeding molecular diagnosis and the development of targeted treatments. We performed linkage analysis, exome, genome and short- and long-read RNA seque...