Shu Yau

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

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 RYR1 are a common cause of exertional myalgia and rhabdomyolysis

Nomazulu Dlamini, Nicol C. Voermans, S. Lillis et al. · Neuromuscular Disorders · 2013 · 199 citations

Medicine, Genetics, Molecular Genetics +5

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