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Ophthalmology|November 2, 2010
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPatrick Yu-Wai-Man, Suma P Shankar, Valérie Biousse, et al.
American Journal of Hematology|April 23, 2016
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imigluceraseGregory M Pastores, Suma P Shankar, Milan Petakov, et al.
JAMA Ophthalmology|February 13, 2015
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal DystrophiesSuma P Shankar, David G Birch, Richard S Ruiz, et al.
Human Mutation|January 6, 2006
Prioritizing regions of candidate genes for efficient mutation screeningTerry A Braun, Suma P Shankar, Steve Davis, et al.
Investigative Ophthalmology & Visual Science|February 5, 2016
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as ModifiersSuma P Shankar, Dianna K Hughbanks-Wheaton, David G Birch, et al.
Molecular Genetics and Metabolism|June 6, 2015
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imigluceraseLaurie Smith, William Rhead, Joel Charrow, et al.
American Journal of Hematology|March 18, 2015
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher diseaseDeborah Elstein, Atul Mehta, Derralynn A Hughes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Fabry disease in infancy and early childhood: a systematic literature reviewDawn A Laney, Dawn S Peck, Andrea M Atherton, et al.
American Journal of Ophthalmology|March 21, 2007
Familial cavitary optic disk anomalies: identification of a novel genetic locusJohn H Fingert, Robert A Honkanen, Suma P Shankar, et al.
Annals of Translational Medicine|September 17, 2021
Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8Elyse M Salpeter, Brian C Leonard, Antonio J Lopez, et al.
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