Erin O’Ferrall

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

Sahar Sibani, Benedicte Christensen, Erin O’Ferrall et al. · Human Mutation · 2000 · 88 citations

Mild Enzyme Deficiencies, Mendelian Disorder, Genetic Disorder +14

Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients

Alain Meyer, Yves Troyanov, Julie Drouin et al. · Arthritis Research & Therapy · 2020 · 67 citations · Full text

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

Sahar Sibani, Daniel Leclerc, Ilan Weisberg et al. · Human Mutation · 2003 · 61 citations

Homocysteine Remethylation, Mendelian Disorder, Genetic Disorder +13

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

Nasim Vasli, Elizabeth Harris, Jason Karamchandani et al. · Brain · 2016 · 38 citations · Full text

Congenital Myopathy, Kinase Zak Cause, Genetics +20

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

Myriam Srour, Maria Lisa Putorti, Jeremy Schwartzentruber et al. · Muscle & Nerve · 2014 · 29 citations