Yvonne Tan

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 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Charaka Hadinnapola, Marta Bleda, Matthias Haimel et al. · Circulation · 2017 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Reperfusion Hemorrhage Following Acute Myocardial Infarction: Assessment with T2* Mapping and Effect on Measuring the Area at Risk

Declan P. O’Regan, Rizwan Ahmed, Narayan Karunanithy et al. · Radiology · 2009 · 98 citations

Medicine, Cardiology, Radiology +17

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon et al. · Scientific Reports · 2018 · 90 citations · Full text

Life Sciences, Cell Biology, Genetics +11

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

Jana Vandrovcová, Ellen Thomas, Santosh S. Atanur et al. · Genetics in Medicine · 2013 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +17