Elizabeth Stevens

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 385 citations · Full text

Public Health, Genetics, Molecular Genetics +17

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 240 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

Elizabeth Stevens, Keren Carss, Sebahattin Çirak et al. · The American Journal of Human Genetics · 2013 · 195 citations · Full text

Life Sciences, Biochemistry, Genetics +9

CXCR4‐Targeted and MMP‐Responsive Iron Oxide Nanoparticles for Enhanced Magnetic Resonance Imaging

Juan Gallo, Nazila Kamaly, Ioannis Lavdas et al. · Angewandte Chemie International Edition · 2014 · 171 citations · Full text

Pharmacy, Biomedical Engineering, Materials Science +17

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

Sebahattin Çirak, A. Reghan Foley, Ralf Herrmann et al. · Brain · 2013 · 106 citations · Full text

Life Sciences, Genetics, Molecular Biology +17