Suzanne Lillis

<i>RYR1</i> mutations are a common cause of congenital myopathies with central nuclei

Jo M. Wilmshurst, Suzanne Lillis, Haiyan Zhou et al. · Annals of Neurology · 2010 · 266 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mutations and polymorphisms of the skeletal muscle α-actin gene (<i>ACTA1</i>)

Nigel G. Laing, Danielle E. Dye, Carina Wallgren‐Pettersson et al. · Human Mutation · 2009 · 245 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper et al. · Human Mutation · 2010 · 175 citations · Full text

Life Sciences, Genetics, Ophthalmology +8

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu et al. · Human Mutation · 2012 · 168 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak et al. · Neuromuscular Disorders · 2013 · 147 citations

Medicine, Pathology, Pediatrics +8