| Year |
Citation |
Score |
| 2020 |
Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, Shankar S, Nedd K, Olivotto I, Ortiz D, Ohashi T, Hamazaki T, Skuban N, Yu J, Barth JA, Nicholls K. 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. Molecular Genetics and Metabolism. PMID 33012654 DOI: 10.1016/J.Ymgme.2020.07.007 |
0.341 |
|
| 2020 |
Mistry PK, Lukina E, Turkia HB, Shankar S, Feldman HB, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, et al. Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial Molecular Genetics and Metabolism. 129: S110-S111. DOI: 10.1016/J.Ymgme.2019.11.284 |
0.327 |
|
| 2019 |
Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, et al. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Molecular Genetics and Metabolism. PMID 30987917 DOI: 10.1016/J.Ymgme.2019.03.010 |
0.35 |
|
| 2019 |
Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, Shankar S, Olivotto I, Ortiz D, Lachmann RH, Ohashi T, Hamazaki T, Skuban N, Yu J, Barth JA, Nicholls K. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 30-month results from the randomized phase 3 ATTRACT study Molecular Genetics and Metabolism. 126. DOI: 10.1016/J.Ymgme.2018.12.120 |
0.308 |
|
| 2018 |
Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP. Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome. American Journal of Medical Genetics. Part A. PMID 30055036 DOI: 10.1002/Ajmg.A.38855 |
0.379 |
|
| 2018 |
Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, et al. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet Journal of Rare Diseases. 13: 68. PMID 29703262 DOI: 10.1186/S13023-018-0813-7 |
0.378 |
|
| 2018 |
Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, et al. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Molecular Genetics & Genomic Medicine. PMID 29649853 DOI: 10.1002/Mgg3.389 |
0.334 |
|
| 2017 |
Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP. Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. Ophthalmic Genetics. 1-4. PMID 28820624 DOI: 10.1080/13816810.2017.1350723 |
0.342 |
|
| 2017 |
Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris H, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, et al. Outcomes after 18 Months of Eliglustat Therapy in Treatment-Naïve Adults with Gaucher Disease Type 1: The Phase 3 ENGAGE Trial. American Journal of Hematology. PMID 28762527 DOI: 10.1002/Ajh.24877 |
0.338 |
|
| 2017 |
Schiffmann R, Bichet DG, Hughes DA, Giugliani R, Wilcox WR, Shankar SP, Germain DP, Viereck C, Castelli JP, Skuban N, Barth JA. Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study Molecular Genetics and Metabolism. 120: S119. DOI: 10.1016/J.Ymgme.2016.11.308 |
0.338 |
|
| 2017 |
Ramaswami U, Wijburg FA, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, Haack KA, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, et al. A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.292 |
0.319 |
|
| 2017 |
Ramaswami U, Wijburg FA, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, Haack KA, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, et al. A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from superficial skin capillary endothelium Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.290 |
0.315 |
|
| 2017 |
Hughes DA, Nicholls K, Germain DP, Shankar SP, Sunder-Plassmann G, Bichet DG, Schiffmann R, Viereck C, Skuban N, Yu J, Castelli JP, Barth JA, Feldt-Rasmussen U. Response of patients with Fabry disease with the amenable GLA mutation p.N215S to treatment with migalastat Molecular Genetics and Metabolism. 120: S68-S69. DOI: 10.1016/J.Ymgme.2016.11.159 |
0.361 |
|
| 2017 |
Germain DP, Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. The phenotypic characteristics of the p.N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study Molecular Genetics and Metabolism. 120. DOI: 10.1016/J.Ymgme.2016.11.110 |
0.324 |
|
| 2016 |
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Journal of Medical Genetics. PMID 27834756 DOI: 10.1136/Jmedgenet-2016-104178 |
0.32 |
|
| 2016 |
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, et al. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. The New England Journal of Medicine. 375: 545-555. PMID 27509102 DOI: 10.1056/Nejmoa1510198 |
0.331 |
|
| 2016 |
Pastores GM, Shankar SP, Petakov M, Giraldo P, Rosenbaum H, Amato DJ, Szer J, Chertkoff R, Brill-Almon E, Zimran A. Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. American Journal of Hematology. PMID 27102949 DOI: 10.1002/Ajh.24399 |
0.302 |
|
| 2016 |
Shankar SP, Hughbanks-Wheaton DK, Birch DG, Sullivan LS, Conneely KN, Bowne SJ, Stone EM, Daiger SP. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Investigative Ophthalmology & Visual Science. 57: 349-59. PMID 26842753 DOI: 10.1167/Iovs.15-16965 |
0.495 |
|
| 2016 |
Shankar SP, Bradley A, Gillespie S, Stelton C, Kharod-Dholakia B, Laney D, Yan J. Eye findings in Fabry disease and correlation with disease severity Molecular Genetics and Metabolism. 117. DOI: 10.1016/J.Ymgme.2015.12.435 |
0.323 |
|
| 2016 |
Germain DP, Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Shankar SP, Waldek S, Wanner C, Jovanovic A. Natural history of Fabry disease in male and female patients with the N215S genotype Molecular Genetics and Metabolism. 117. DOI: 10.1016/J.Ymgme.2015.12.265 |
0.304 |
|
| 2015 |
Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P. Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy. Journal of Neuromuscular Diseases. 2: S61-S62. PMID 27858651 DOI: 10.1016/J.Ymgme.2013.12.057 |
0.341 |
|
| 2015 |
Levinson JD, Yan J, Lambert SR, Shankar SP. MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION. Retinal Cases & Brief Reports. PMID 26584329 DOI: 10.1097/Icb.0000000000000248 |
0.308 |
|
| 2015 |
Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Molecular Genetics and Metabolism. PMID 26043810 DOI: 10.1016/J.Ymgme.2015.05.012 |
0.354 |
|
| 2015 |
Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet Journal of Rare Diseases. 10: 64. PMID 25994334 DOI: 10.1186/S13023-015-0280-3 |
0.344 |
|
| 2015 |
Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, et al. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. Plos One. 10: e0124987. PMID 25955246 DOI: 10.1371/Journal.Pone.0124987 |
0.352 |
|
| 2015 |
Elstein D, Mehta A, Hughes DA, Giraldo P, Charrow J, Smith L, Shankar SP, Hangartner TN, Kunes Y, Wang N, Crombez E, Zimran A. Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease. American Journal of Hematology. 90: 592-7. PMID 25776130 DOI: 10.1002/Ajh.24007 |
0.33 |
|
| 2015 |
Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, ... ... Shankar S, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. Jama. 313: 695-706. PMID 25688781 DOI: 10.1001/Jama.2015.459 |
0.345 |
|
| 2015 |
Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. Jama Ophthalmology. 133: 511-7. PMID 25675413 DOI: 10.1001/Jamaophthalmol.2014.6115 |
0.474 |
|
| 2015 |
Mistry P, Amato DJ, Dasouki M, Packman S, Pastores GM, Assouline S, Balwani M, Ortega A, Shankar S, Solano MH, Ross LH, Angell J, Peterschmitt MJ. ENGAGE — A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: Results after 18 months Molecular Genetics and Metabolism. 114. DOI: 10.1016/J.Ymgme.2014.12.179 |
0.305 |
|
| 2014 |
Weinreb NJ, Feingold E, Shankar S, Rosenbloom BE, Finegold D. Evaluation of Disease Burden and Response to Treatment in Adults with Type 1 Gaucher Disase Using a Validated DS3 Severity Score Index Blood. 124: 4957-4957. DOI: 10.1182/Blood.V124.21.4957.4957 |
0.339 |
|
| 2014 |
Weinreb NJ, Finegold D, Feingold E, Rosenbloom B, Shankar S, Amato D. Validation study of a DS3 severity score index for adult patients with type 1 Gaucher disease (GD1) Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.281 |
0.324 |
|
| 2014 |
Richards S, Laney D, Pervaiz MA, Shankar S. An open-label, switchover trial to assess the safety and efficacy of agalsidase beta in patients with Fabry disease treated with agalsidase alfa enzyme replacement therapy Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.217 |
0.31 |
|
| 2014 |
Goker-Alpan O, Nedd K, Shankar S, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R. HGT-REP-059 treatment protocol: effect and tolerability of open-label agalsidase alfa in patients with Fabry disease Molecular Genetics and Metabolism. 111. DOI: 10.1016/J.Ymgme.2013.12.099 |
0.336 |
|
| 2013 |
Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Laer LV, Kogon B. Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature European Journal of Pediatrics. 173: 671-675. PMID 24276535 DOI: 10.1007/S00431-013-2217-Y |
0.34 |
|
| 2013 |
Amato DJ, Dasouki M, Packman S, Pastores GM, Assouline S, Balwani M, Mistry P, Ortega A, Shankar S, Solano MH, Ross LH, Angell J, Peterschmitt J. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results Blood. 122: 2275-2275. DOI: 10.1182/Blood.V122.21.2275.2275 |
0.302 |
|
| 2013 |
Wijburg F, Bénichou B, Bichet DG, Dostalova G, Clarke L, Fainboim A, Fellgiebel A, Forcelini C, Haack KA, Hopkin R, Scott CR, Shankar S, Tylki-Szymanska A, Tøndel C, Ramaswami U. A randomized, multicenter, multinational, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms: Baseline demographics and clinical data Molecular Genetics and Metabolism. 108. DOI: 10.1016/J.Ymgme.2012.11.272 |
0.331 |
|
| 2013 |
Richards S, Laney D, Pervaiz MA, Shankar S. An open-label, switchover trial to assess the safety and efficacy of Fabrazyme in patients with Fabry disease treated with Replagal enzyme replacement therapy Molecular Genetics and Metabolism. 108. DOI: 10.1016/J.Ymgme.2012.11.208 |
0.316 |
|
| 2013 |
Pastores G, Shankar SP, Szer J, Petakov M, Cox TM, Giraldo P, Rosenbaum H, Amato DJ, Mengel E, Chertkoff R, Almon-Brill E, Zimran A. Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results Molecular Genetics and Metabolism. 108. DOI: 10.1016/J.Ymgme.2012.11.193 |
0.364 |
|
| 2011 |
Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. Ophthalmology. 118: 558-63. PMID 21036400 DOI: 10.1016/J.Ophtha.2010.07.029 |
0.377 |
|
| 2010 |
Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. American Journal of Medical Genetics. Part A. 152: 2574-7. PMID 20734337 DOI: 10.1002/Ajmg.A.33596 |
0.326 |
|
| 2010 |
Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 14: 93-6. PMID 20227630 DOI: 10.1016/J.Jaapos.2009.11.012 |
0.542 |
|
| 2009 |
Shankar S, Weisiger K, Hogue J, Josephson A, Packman S. 128. Fabry disease: Correlation of progression of white matter disease and severity of neurological manifestations with the pulvinar sign Molecular Genetics and Metabolism. 96. DOI: 10.1016/J.Ymgme.2008.11.129 |
0.331 |
|
| 2008 |
Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R, Braun TA, Sheffield VC, Sadun AA, Stone EM. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genetics. 29: 17-24. PMID 18363168 DOI: 10.1080/13816810701867607 |
0.64 |
|
| 2007 |
Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. Familial cavitary optic disk anomalies: identification of a novel genetic locus. American Journal of Ophthalmology. 143: 795-800. PMID 17368552 DOI: 10.1016/J.Ajo.2007.01.042 |
0.628 |
|
| 2007 |
Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. No association between variations in the WDR36 gene and primary open-angle glaucoma. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 434-6. PMID 17353431 DOI: 10.1001/Archopht.125.3.434-B |
0.588 |
|
| 2006 |
Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. Genetic factors modifying clinical expression of autosomal dominant RP. Advances in Experimental Medicine and Biology. 572: 3-8. PMID 17249547 DOI: 10.1007/0-387-32442-9_1 |
0.493 |
|
| 2006 |
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, ... Shankar SP, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Investigative Ophthalmology & Visual Science. 47: 3052-64. PMID 16799052 DOI: 10.1167/Iovs.05-1443 |
0.369 |
|
| 2006 |
Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. Prioritizing regions of candidate genes for efficient mutation screening. Human Mutation. 27: 195-200. PMID 16395665 DOI: 10.1002/Humu.20247 |
0.506 |
|
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