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Suma P Shankar
Suma P Shankar
Professor, Chief of Genomic Medicine Division, Director Precision Genomics, University of California
Verified email at ucdavis.edu
Title
Cited by
Cited by
Year
Treatment of Fabry’s disease with the pharmacologic chaperone migalastat
DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ...
New england journal of medicine 375 (6), 545-555, 2016
5872016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ...
Journal of medical genetics 54 (4), 288-296, 2017
4292017
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, ...
Investigative ophthalmology & visual science 47 (7), 3052-3064, 2006
3262006
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines
MEM Pierpont, PL Magoulas, S Adi, MI Kavamura, G Neri, J Noonan, ...
Pediatrics 134 (4), e1149-e1162, 2014
1932014
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial
PK Mistry, E Lukina, HB Turkia, D Amato, H Baris, M Dasouki, M Ghosn, ...
Jama 313 (7), 695-706, 2015
1692015
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
D Dimmock, S Caylor, B Waldman, W Benson, C Ashburner, ...
The American Journal of Human Genetics 108 (7), 1231-1238, 2021
1522021
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
SP Shankar, JH Fingert, V Carelli, ML Valentino, TM King, SP Daiger, ...
Ophthalmic genetics 29 (1), 17-24, 2008
1352008
Fabry disease in infancy and early childhood: a systematic literature review
DA Laney, DS Peck, AM Atherton, LP Manwaring, KM Christensen, ...
Genetics in Medicine 17 (5), 323-330, 2015
1172015
Costello syndrome: Clinical phenotype, genotype, and management guidelines
KW Gripp, LA Morse, M Axelrad, KC Chatfield, A Chidekel, W Dobyns, ...
American Journal of Medical Genetics Part A 179 (9), 1725-1744, 2019
932019
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with G aucher disease type 1: The phase 3 ENGAGE trial
PK Mistry, E Lukina, H Ben Turkia, SP Shankar, H Baris, M Ghosn, ...
American journal of hematology 92 (11), 1170-1176, 2017
932017
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
DP Germain, E Brand, A Burlina, F Cecchi, SC Garman, J Kempf, ...
Molecular genetics & genomic medicine 6 (4), 492-503, 2018
892018
No association between variations in the WDR36 gene and primary open-angle glaucoma
JH Fingert, WLM Alward, YH Kwon, SP Shankar, JL Andorf, DA Mackey, ...
Archives of ophthalmology 125 (3), 434-436, 2007
782007
Neurocognition across the spectrum of mucopolysaccharidosis type I: age, severity, and treatment
EG Shapiro, I Nestrasil, K Rudser, K Delaney, V Kovac, A Ahmed, B Yund, ...
Molecular genetics and metabolism 116 (1-2), 61-68, 2015
772015
Oral migalastat HCl leads to greater systemic exposure and tissue levels of active α-galactosidase A in Fabry patients when co-administered with infused agalsidase
DG Warnock, DG Bichet, M Holida, O Goker-Alpan, K Nicholls, M Thomas, ...
PLoS One 10 (8), e0134341, 2015
742015
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies
P Yu-Wai-Man, SP Shankar, V Biousse, NR Miller, LJH Bean, B Coffee, ...
Ophthalmology 118 (3), 558-563, 2011
652011
Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study
U Feldt-Rasmussen, D Hughes, G Sunder-Plassmann, S Shankar, ...
Molecular genetics and metabolism 131 (1-2), 219-228, 2020
592020
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial
FA Wijburg, B Bénichou, DG Bichet, LA Clarke, G Dostalova, A Fainboim, ...
PloS one 10 (5), e0124987, 2015
582015
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)
NJ Weinreb, DN Finegold, E Feingold, Z Zeng, BE Rosenbloom, ...
Orphanet journal of rare diseases 10, 1-16, 2015
422015
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
R Mao, P Krautscheid, RP Graham, A Ganguly, S Shankar, M Ferber, ...
Genetics in Medicine 23 (10), 1807-1817, 2021
402021
Retinoblastoma
A Ramasubramanian, CL Shields
JP Medical Ltd, 2012
392012
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