Patrick Deegan

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

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Derralynn Hughes, Suma P. Shankar, Gere Sunder–Plassmann et al. · Journal of Medical Genetics · 2016 · 386 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

Marieke Biegstraaten, Reynir Arngrı́msson, Frédéric Barbey et al. · Orphanet Journal of Rare Diseases · 2015 · 345 citations · Full text

Life Sciences, Internal Medicine, Pharmacotherapy +13

Natural history of Fabry disease in females in the Fabry Outcome Survey

Patrick Deegan · Journal of Medical Genetics · 2005 · 300 citations · Full text

Medicine, Cardiology, Internal Medicine +14

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 244 citations · Full text

Life Sciences, Biochemistry, Enzymology +15