Robert McWilliam

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

Medicine, Cardiology, Genetics +11

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey et al. · Annals of Neurology · 2008 · 178 citations

Life Sciences, Neurology, Neuroscience +17

Extreme phenotypic diversity and nonpenetrance in families with the <i>LMNA</i> gene mutation R644C

Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg et al. · American Journal of Medical Genetics Part A · 2008 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood

Sameer M. Zuberi, Noelle S. Matta, Syed Touseef Nawaz et al. · Neuromuscular Disorders · 1999 · 79 citations

Medicine, Neurology, Pediatrics +14

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21

Yanick J. Crow, Andrew P. Jackson, Emma Roberts et al. · The American Journal of Human Genetics · 2000 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10