Lein Dofash
PhD Student | Rare Disease Genetics & Functional Genomics Lab | Boorloo (Perth)
Email
Email
LinkedIn
LinkedIn
lein.dofash@uwa.edu.au
lein.dofash@uwa.edu.au
Ravenscroft Lab
Ravenscroft Lab
Publications
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy
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
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
An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene
The ACTA1 gene encodes skeletal muscle alpha-actin, which forms the core of the sarcomeric thin filament in adult skeletal muscle. ACTA1 represents one of six highly conserved actin proteins that hav...
Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy
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
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 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
A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
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