Emily J. Todd

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

Mechanobiology, Thin Filaments, Systems Biology +15

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen et al. · The American Journal of Human Genetics · 2013 · 162 citations · Full text

Molecular Physiology, Signal Transduction, Btb-kelch-mediated Ubiquitination +6

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Emily J. Todd, Kyle S. Yau, Royston Ong et al. · Orphanet Journal of Rare Diseases · 2015 · 113 citations · Full text

The use of extracorporeal membrane oxygenation in blunt thoracic trauma

Jordan V. Jacobs, Nicole Hooft, Brenton R. Robinson et al. · The Journal of Trauma: Injury, Infection, and Critical Care · 2015 · 59 citations