Sandra T. Cooper

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Lisa G. Riley, Sandra T. Cooper, Peter F. Hickey et al. · The American Journal of Human Genetics · 2010 · 233 citations · Full text

Mitochondrial Myopathy, Lactic Acidosis, Causes Myopathy +10

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 195 citations

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 · 172 citations · Full text

Developmental Anomaly, Type 1, Mendelian Disorder +13

C2C12 Co‐culture on a fibroblast substratum enables sustained survival of contractile, highly differentiated myotubes with peripheral nuclei and adult fast myosin expression

Sandra T. Cooper, Adam L. Maxwell, Eddy Kizana et al. · Cell Motility and the Cytoskeleton · 2004 · 162 citations