Lein Dofash

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy

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

An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry - Nature Communications

A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism