SumaPShankarMDPhD

PubMed

• 318 citations
  Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
  Dominique P. Germain, Derralynn Hughes, Kathleen Nicholls, Daniel G. Bichet, Roberto Giugliani
  The New England Journal of Medicine. 2016-08-10
• 41 citations
  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.
  David G. Warnock, Daniel G. Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls
  Plos One. 2015-08-07
• 68 citations
  Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
  Dominique P. Germain, Eva Brand, Alessandro P. Burlina, Franco Cecchi, Scott C. Garman
  Molecular Genetics & Genomic Medicine. 2018-04-12

Journal Articles

• Proceedings of the Fifth International RASopathies Symposium: When Development and Cancer Intersect  
  David A Stevenson, Katherine A Rauen, Bruce D Gelb, Corinne M Linardic, Suma Shankar, Brigitte C Widemann, Karen Gripp, Maxim Itkin, American Journal of Medical Genetics Part A
• 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  
  Suma Shankar, MD, American Journal of Medical Genetics Part A
• Cognitive Computing and Information Processing  
  Shankar S, Keynote Speaker, 1/1/2016
• Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features  
  Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP, American Journal of Ophthalmology Case Reports, 1/1/2016
• Genetics in Pediatrics: Genetic diseases that affect child health and development  
  Journal of the Medical Association of Atlanta, 1/1/2015
• Join now to see all

Books/Book Chapters

• Emery and Rimoin's Principles and Practice of Medical Genetics 
  Chapter: Inherited retinal and choroidal dystrophies 
  Shankar SPEdition 6th,2012
• Retinoblastoma 
  Chapter: Systemic 13q Syndrome 
  Wells J, Shankar SP, Hubbard BEditors: M.D., Carol L. Shields, M.D., William.2011
• Retinal degeneration XIV 
  Chapter: Genetic factors modifying clinical expression of autosomal dominant RP 
  Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JRKluwer/Plenum Publishers2005
• Handbook of Management of Vitreo-retinal disorders 
  Chapter: Genetic Testing 
  Shankar SP and Park SSWorld Scientific Publishing Co.
• Join now to see all

Abstracts/Posters

• Response of Patients with Fabry Disease with the Amenable GLA Mutation p.N215S to Treatment with Migalastat.
  Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Schiffmann R, Skuban N, Castelli JP, Feldt-Rasmussen U on behalf of the ATTRACT investigators, The American College of Medical Genetics, 1/1/2017
• Long-term Efficacy and Safety of Eliglustat in Gaucher Disease Type 1: Results of the Phase 3, Double-Blind, Placebo-Controlled ENGAGE Trial.
  Balwani M, Mistry PK, Lukina E, Ben Turkia H, Shankar SP et al, The American College of Medical Genetics, 1/1/2017
• Identification of lysosomal acid lipase (LAL) deficiency patients using key existing clinical data points focused on BMI, type 2 hyperlipidemia, and/or fatty liver dis...
  Long V, Laney D, Shankar SP, Li H, Molecular Genetics and Metabolism, 1/1/2017
• The phenotypic characteristics of the p. N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study.
  Germain DP, Eva Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A, Molecular Genetics and Metabolism, 1/1/2017
• A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIEL...
  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 RC, Shankar SP et al, Molecular Genetics and Metabolism, 1/1/2017
• Mistry PK, Lukina E, Turkia HB, Shankar SP, Feldman HB, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Wu Y, Gaem..., Molecular Genetics and Metabolism, 1/1/2017
• Response of patients with Fabry disease with the amenable GLA mutation p. N215S to treatment with migalastat.
  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, Molecular Genetics and Metabolism, 1/1/2017
• Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study.
  Schiffmann R, Bichet DG, Hughes DA, Giugliani R, Wilcox WR, Shankar SP, Germain DP, Viereck C, Castelli JP, Skuban N, Barth JA, Molecular Genetics and Metabolism, 1/1/2017
• Precision Genomics in the Diagnosis of Syndromic Vitreo-retinopathies.
  Shankar SP, Alexander J, The Western Medical Research Conference, 1/1/2017
• Migalastat Improves Gastrointestinal Signs and Symptoms in Patients With Fabry Disease: Patient-Level Responder Analyses From the Double-Blind, Placebo-Controlled Phas...
  Schiffmann R, Bichet DG, Hughes DA, Giugliani R, Wilcox WR, Shankar SP, Germain DP, Viereck C, Castelli JP, Skuban N, Barth B, The American Society of Human Genetics, 1/1/2016
• Eye findings in Fabry disease and correlation with disease severity.
  Shankar SP, Bradley A, Gillespie S, Stelton C, Kharod-Dholakia B, Laney D, Yan J, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
• Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report.
  Lisi E, Foley A, Shankar SP, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
• Baffling brain MRI findings in a patient with Gaucher disease.
  Long V, Soares B, Shankar SP, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
• Natural history of Fabry disease in male and female patients with the N215S genotype.
  Germain DP; Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Shankar SP, Waldek S, Wanner C, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
• Phenotype Based Targeted Next Generation Sequencing Complemented with Microarray Analysis has high yield in Clinical Genetic Testing of Inherited Eye Disorders.
  Shankar SP; Yan, Jiong; Richards, Sarah; Bunke, Brian; Hegde, Madhuri; Alexander, John, Investigative Ophthalmology and Visual Science, 1/1/2016
• Retinopathy and optic atrophy: expanding phenotypic spectrum of AARS2 gene mutations.
  Peragallo JH, Keller S, Cornell K, van der Knaap M, Soares B, Shankar SP, Investigative Ophthalmology and Visual Science, The Association for Research in Vision and Ophthalmology, 1/1/2016
• Novel genetic variants causing hereditary vitreoretinopathies.
  Bui DK, Jain N, Hubbard B, Shankar SP, Investigative Ophthalmology and Visual Science, 1/1/2016
• The diagnosis of neuronal ceroid lipofuscinosis by next generation sequencing eye and seizure panels.
  Lisi E, Sanchez R, Richards S, Alexander J, Bean L, Collins C, Gambello M, Shankar SP, The American Society of Human Genetics Meeting, 1/1/2015
• Judith Peterschmitt, MD ENGAGE: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Eliglustat in Adu...
  Mistry P, Amato DJ, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, MD; Shankar SP,; Maria Helena Solano, MD; Leorah H. Ross, MD, PhD; Jennifer An..., Molecular Genetics and Metabolism, 1/1/2015
• Utility of NGS Based Gene Panels Complemented with Gene Targeted aCGH Deletion/Duplication Analysis and Mitochondrial Genome Sequencing for Eye Related Disorders.
  Alexander J, Bunke B, Garber K, da Silva C, Richards S, Hegde M, Shankar SP, The American College of Medical Genetics Meeting, 1/1/2015
• Atypical presentation of Neuronal Ceroid Lipofuscinosis 8 in 2 siblings.
  Sanchez R, Richards S, Yan J, Collins C, Shankar SP, The American College of Medical Genetics Meeting, 1/1/2015
• Retinal Findings in a Family with Spinocerebellar Ataxia Type 7.
  Levinson J, Yan J, Scott L, Shankar SP, The American Society of Human Genetics Meeting, 1/1/2015
• Effects of oral eliglustat on bone parameters in treatment-naive patients with Gaucher disease type 1: results from the phase 3, randomized, placebo-controlled ENGAGE ...
  Mistry P, Amato DJ, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, Shankar SP, Solano MH, Ross LH, Angell J, Peterschmitt MJ, The American Society of Human Genetics Meeting, 1/1/2015
• Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with en...
  Chien YH, van der P, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Journal of Neuromuscular Diseases, 1/1/2015
• Amato D, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar SP, Solano MH, Ross LH, Angell J Peterschmitt J, The American Society of Human Genetics Meeting, 1/1/2014
• Join now to see all

Lectures

• Emerging therapies in rare genetic disorders 
  Centre for Human Genetics, Bangalore, India - 1/1/2017