Suma P. Shankar

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Dominique P. Germain, Derralynn Hughes, Daniel G. Bichet et al. · New England Journal of Medicine · 2016 · 556 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +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

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 287 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock, Sara Caylor, Bryce Waldman et al. · The American Journal of Human Genetics · 2021 · 248 citations · Full text

Medicine, Child Health, Pediatrics +10

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia et al. · JAMA · 2015 · 156 citations

Medicine, Hematology, Pharmacotherapy +11