SumaPShankarMDPhD

PubMed

• Glaucoma Following Cataract Surgery in Children-Finally, a Clue.
  James D Brandt, Suma P Shankar> ;JAMA Ophthalmology. 2023 Sep 1
• Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
  Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 3 citations
  Prader-Willi and Angelman Syndromes: Mechanisms and Management.
  Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense, Suma P Shankar> ;The Application of Clinical Genetics. 2023 Jan 1
• Retinal dystrophies: A look beyond the eyes.
  Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P Shankar> ;American Journal of Ophthalmology Case Reports. 2022 Sep 1
• Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism.
  Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I Quigley, Kathleen Angkustsiri, Suma P Shankar> ;Molecular Genetics & Genomic Medicine. 2022 Oct 1
• Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome.
  Nattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, Suma P Shankar, Randi Hagerman> ;BMJ Case Reports. 2022 Jul 26
• 5 citations
  A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
  Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G Monaghan, Joel Krier, ...> ;Genetics in Medicine. 2022 Jul 1
• 10 citations
  The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
  Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto B...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 4 citations
  Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
  Victor Kovac, Elsa G Shapiro, Kyle D Rudser, Bryon A Mueller, Julie B Eisengart, Kathleen A Delaney, Alia Ahmed, Kelly E King, Brianna D Yund, Morton J Cowan, Julian R...> ;Molecular Genetics and Metabolism. 2022 Feb 1
• 5 citations
  Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
  Jacqueline L. Steele, Michelle M. Morrow, Harvey B. Sarnat, Ebba Alkhunaizi, Tracy Brandt, David Chitayat, Colette P. DeFilippo, Ganka Douglas, Holly Dubbs, Houda Zgha...> ;Pediatric Neurology. 2022 Jan 1
• 4 citations
  Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
  Suma P. Shankar, Reshmitha Fallurin, Tonya Watson, Prabhu Rv Shankar, Terri L. Young, Deborah Orel-Bixler, Katherine A. Rauen> ;Ophthalmic Genetics. 2021 Oct 6
• 19 citations
  Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
  Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia, Suma P. Shankar, Hagit Baris Feldman, Marwan Ghosn, Atul Mehta, Seymour Packman, Heather Lau, Milan Petakov, Sarit ...> ;American Journal of Hematology. 2021 Sep 1
• 119 citations
  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 A. Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthu...> ;American Journal of Human Genetics. 2021 Jul 1
• 25 citations
  Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Rong Mao, Patti Krautscheid, Rondell P. Graham, Arupa Ganguly, Suma P. Shankar, Matthew J. Ferber, Madhuri R Hegde> ;Genetics in Medicine. 2021 Jun 17
• 1 citations
  Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8
  Elyse Marie Salpeter, Brian C. Leonard, Antonio Jacobo Lopez, Christopher J. Murphy, Sara M Thomasy, Denise M. Imai, Kristin N Grimsrud, Kevin C K Lloyd, Jiong Yan, Ro...> ;Annals of Translational Medicine. 2021 Apr 19
• 4 citations
  The evolving role of genetics in ophthalmology.
  Natario L. Couser, Brian P. Brooks, Arlene V. Drack, Suma P. Shankar> ;Ophthalmic Genetics. 2021 Jan 12
• 35 citations
  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.
  Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma P. Shankar, Khan Nedd, Iacopo Olivotto, Damara Ortiz, Toya Ohashi, Takashi Hamazaki, Nina Skuban, J...> ;Molecular Genetics and Metabolism. 2020 Sep 1
• 4 citations
  Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two-year-old female.
  Brian P. Tullius, Suma P. Shankar, Stacey L. Cole, Vivien Triano, Swaroop Aradhya, Eric C. Huang, Thomas Ray Sanchez, Anjali S Pawar> ;Pediatric Blood & Cancer. 2019 Aug 1
• 6 citations
  Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.
  Mustafa Safi, Salimeh Khazaei Nejad, Mary A O'Hara, Suma P. Shankar> ;Journal of Pediatric Ophthalmology and Strabismus. 2019 Jul 5
• 62 citations
  Costello syndrome: Clinical phenotype, genotype, and management guidelines.
  Karen W. Gripp, Lindsey A. Morse, Marni E. Axelrad, Kathryn C. Chatfield, Aaron Chidekel, William B. Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E. Lin, David D. Schwar...> ;American Journal of Medical Genetics. Part A. 2019 Sep 1
• 6 citations
  First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
  Katherine A. Rauen, Abeer Al-Saegh, Shay Ben-Shachar, Yemima Berman, Jaishri O. Blakeley, Isabel Cordeiro, Ype Elgersma, D. Gareth Evans, Michael Fisher, Ian M. Frayli...> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 23 citations
  Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
  Uma Ramaswami, Daniel G. Bichet, Lorne A. Clarke, Gabriela Dostálová, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Mateus Forcelini, Kristina An Haack, Robert J. H...> ;Molecular Genetics and Metabolism. 2019 Apr 3
• 3 citations
  Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.
  Anupam Sachdeva, Prachi Jain, Vinod Gunasekaran, Sunita Bijarnia Mahay, Sharmila B. Mukherjee, Randi J Hagerman, Suma P. Shankar, Seema Kapoor, Shalini N. Kedia> ;Indian Pediatrics. 2019 Mar 15
• 8 citations
  Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
  Katherine A. Rauen, Lisa Schoyer, Lisa Schill, Beth Stronach, John G. Albeck, Brage S. Andresen, Hélène Cavé, Michelle Ellis, Steven M Fruchtman, Bruce D. Gelb, Christ...> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 7 citations
  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
  Arunkanth Ankala, Nieraj Jain, Baker Hubbard, John J. Alexander, Suma P. Shankar> ;American Journal of Medical Genetics. Part A. 2018 Aug 1
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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
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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.
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Abstracts/Posters

• Precision Genomics in the Diagnosis of Syndromic Vitreo-retinopathies.
  Shankar SP, Alexander J, The Western Medical Research Conference, 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• A Novel Nonsense Mutation in PRPF31 Associated with Autosomal Dominant Retinitis Pigmentosa.
  Richards S, Goei S, Collins C, Shankar SP, The American College of Medical Genetics, 1/1/2014
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Lectures

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