Elaine Murphy

Identification and Assessment of Anderson-Fabry Disease by Cardiovascular Magnetic Resonance Noncontrast Myocardial T1 Mapping

Daniel Sado, Steven K White, Stefan K. Piechnik et al. · Circulation Cardiovascular Imaging · 2013 · 520 citations · Full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease

Daniel Sado, Andrew Flett, Sanjay M Banypersad et al. · Heart · 2012 · 357 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance

Silvia Pica, Daniel Sado, Viviana Maestrini et al. · Journal of Cardiovascular Magnetic Resonance · 2014 · 197 citations · Full text