Sharon E. Smith

Copy number variation plays an important role in clinical epilepsy

Heather E. Olson, Yiping Shen, Jennifer Avallone et al. · Annals of Neurology · 2014 · 173 citations

Life Sciences, Genetics, Molecular Genetics +17

The long-term international safety experience of imiglucerase therapy for Gaucher disease

Kathryn Starzyk, Susan Richards, John Yee et al. · Molecular Genetics and Metabolism · 2006 · 123 citations

Pharmacy, Pharmacology, Pharmacotherapy +4

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur, Megan T. Cho, Lindsay B. Henderson et al. · Human Genetics · 2016 · 84 citations

Medicine, Genetics, Molecular Genetics +14

Safety, Tolerability, and Pharmacokinetics of Eliglustat Tartrate (Genz-112638) After Single Doses, Multiple Doses, and Food in Healthy Volunteers

Michel Peterschmitt, Amy C. Burke, Larry Blankstein et al. · The Journal of Clinical Pharmacology · 2010 · 61 citations

Medicine, Clinical Pharmacokinetics, Pharmacology +10

Norrie disease: Extraocular clinical manifestations in 56 patients

Sharon E. Smith, Thomas E. Mullen, Dionne A. Graham et al. · American Journal of Medical Genetics Part A · 2012 · 59 citations

Medicine, Neurology, Ophthalmology +16