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 · 806 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 201 citations

Life Sciences, Genetics, Molecular Genetics +17

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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