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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

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 · 370 citations · Full text

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 · 335 citations · Full text

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

Patrick Deegan · Journal of Medical Genetics · 2005 · 294 citations · Full text

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 · 238 citations · Full text