Lee B. Miles

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

R. Bryson-Richardson, G. Ravenscroft, L. Medne, 2024, Science Translational Medicine.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

Yoshihiko Saito, R. Bryson-Richardson, G. Ravenscroft, 2023, medRxiv.