Suma Shankar

Title(s)Associate Professor, Pediatrics
SchoolSchool of Medicine
Address2825, 50 th Street
CA 95817
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    Other Positions
    Title(s)Chief, Genomic Medicine Division, Pediatrics

    Title(s)Director of Precision Genomics, Pediatrics

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Glaucoma Following Cataract Surgery in Children-Finally, a Clue. JAMA Ophthalmol. 2023 09 01; 141(9):880-881. Brandt JD, Shankar SP. PMID: 37590009.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Prader-Willi and Angelman Syndromes: Mechanisms and Management. Appl Clin Genet. 2023; 16:41-52. Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP. PMID: 37051256; PMCID: PMC10084876.
      View in: PubMed   Mentions: 2  
    3. Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. Am J Med Genet A. 2023 04; 191(4):930-940. Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. PMID: 36651673.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Oct; 24(10):2207. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network. PMID: 36205747; PMCID: PMC9598985.
      View in: PubMed   Mentions: 1     Fields:    
    5. Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism. Mol Genet Genomic Med. 2022 10; 10(10):e2018. Punatar R, Egense A, Mao R, Procter M, Bosworth M, Quigley DI, Angkustsiri K, Shankar SP. PMID: 35929060; PMCID: PMC9544204.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    6. Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome. BMJ Case Rep. 2022 Jul 26; 15(7). Tassanakijpanich N, Wright R, Tassone F, Shankar SP, Hagerman R. PMID: 35882436; PMCID: PMC9330300.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    7. Retinal dystrophies: A look beyond the eyes. Am J Ophthalmol Case Rep. 2022 Sep; 27:101613. Tang VD, Egense A, Yiu G, Meyers E, Moshiri A, Shankar SP. PMID: 35756836; PMCID: PMC9228281.
      View in: PubMed   Mentions: 1  
    8. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 07; 24(7):1567-1582. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA, Undiagnosed Diseases Network. PMID: 35482014; PMCID: PMC9426662.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    9. The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery. Am J Med Genet A. 2022 06; 188(6):1915-1927. Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M. PMID: 35266292; PMCID: PMC9117434.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    10. Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I. Mol Genet Metab. 2022 02; 135(2):122-132. Kovac V, Shapiro EG, Rudser KD, Mueller BA, Eisengart JB, Delaney KA, Ahmed A, King KE, Yund BD, Cowan MJ, Raiman J, Mamak EG, Harmatz PR, Shankar SP, Ali N, Cagle SR, Wozniak JR, Lim KO, Orchard PJ, Whitley CB, Nestrasil I. PMID: 35012890; PMCID: PMC8898074.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    11. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome. Pediatr Neurol. 2022 01; 126:65-73. Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. PMID: 34740135.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    12. Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development. Ophthalmic Genet. 2022 02; 43(1):48-57. Shankar SP, Fallurin R, Watson T, Shankar PR, Young TL, Orel-Bixler D, Rauen KA. PMID: 34612139.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. Retinal degeneration in mice and humans with neuronal ceroid lipofuscinosis type 8. Ann Transl Med. 2021 Aug; 9(15):1274. Salpeter EM, Leonard BC, Lopez AJ, Murphy CJ, Thomasy S, Imai DM, Grimsrud K, Lloyd KCK, Yan J, Sanchez Russo R, Shankar SP, Moshiri A. PMID: 34532411; PMCID: PMC8421982.
      View in: PubMed   Mentions: 2  
    14. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. Am J Hematol. 2021 09 01; 96(9):1156-1165. Mistry PK, Lukina E, Ben Turkia H, Shankar SP, Baris Feldman H, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Foster MC, Gaemers SJM, Peterschmitt MJ. PMID: 34161616; PMCID: PMC8457136.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    15. Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 10; 23(10):1807-1817. Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M, ACMG Laboratory Quality Assurance Committee. PMID: 34140662.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    16. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021 07 01; 108(7):1231-1238. Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. PMID: 34089648; PMCID: PMC8322922.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    17. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 04; 42(2):110-113. Couser NL, Brooks BP, Drack AV, Shankar SP. PMID: 33432855.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    18. 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. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):219-228. 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. PMID: 33012654.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCTClinical Trials
    19. Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up. J Pediatr Ophthalmol Strabismus. 2019 Jul 05; 56:e45-e48. Safi M, Nejad SK, O'Hara M, Shankar SP. PMID: 31282960.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    20. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744. Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. PMID: 31222966; PMCID: PMC8238015.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    21. 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. Pediatr Blood Cancer. 2019 08; 66(8):e27788. Tullius BP, Shankar SP, Cole S, Triano V, Aradhya S, Huang EC, Sanchez T, Pawar A. PMID: 31038288.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    22. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Mol Genet Metab. 2019 05; 127(1):86-94. 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, Tylki-Szymanska A, Bénichou B, Wijburg FA. PMID: 30987917.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCTClinical Trials
    23. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Am J Med Genet A. 2019 06; 179(6):1091-1097. Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. PMID: 30908877; PMCID: PMC8279388.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    24. Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India. Indian Pediatr. 2019 03 15; 56(3):221-228. Sachdeva A, Jain P, Gunasekaran V, Mahay SB, Mukherjee S, Hagerman R, Shankar S, Kapoor S, Kedia SN, Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee., Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee. PMID: 30954995.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    25. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. Am J Med Genet A. 2018 12; 176(12):2924-2929. Rauen KA, Schoyer L, Schill L, Stronach B, Albeck J, Andresen BS, Cavé H, Ellis M, Fruchtman SM, Gelb BD, Gibson CC, Gripp K, Hefner E, Huang WYC, Itkin M, Kerr B, Linardic CM, McMahon M, Oberlander B, Perlstein E, Ratner N, Rogers L, Schenck A, Shankar S, Shvartsman S, Stevenson DA, Stites EC, Stork PJS, Sun C, Therrien M, Ullian EM, Widemann BC, Yeh E, Zampino G, Zenker M, Timmer W, McCormick F. PMID: 30302932; PMCID: PMC6312476.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    26. 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. Am J Med Genet A. 2018 08; 176(8):1778-1783. Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP. PMID: 30055036.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    27. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet J Rare Dis. 2018 04 27; 13(1):68. 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, Nicholls K. PMID: 29703262; PMCID: PMC5923014.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCTClinical Trials
    28. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Mol Genet Genomic Med. 2018 Apr 12. 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, Jovanovic A. PMID: 29649853; PMCID: PMC6081232.
      View in: PubMed   Mentions: 38     Fields:    
    29. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial. Am J Hematol. 2017 Nov; 92(11):1170-1176. 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, Gaemers SJM, Tayag R, Peterschmitt MJ. PMID: 28762527; PMCID: PMC5656936.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCTClinical Trials
    30. Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene. Ophthalmic Genet. 2018 Jan-Feb; 39(1):99-102. Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP. PMID: 28820624; PMCID: PMC6104516.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    31. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 04; 54(4):288-296. 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, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. PMID: 27834756; PMCID: PMC5502308.
      View in: PubMed   Mentions: 130     Fields:    Translation:HumansCellsCTClinical Trials
    32. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey. Blood Cells Mol Dis. 2018 02; 68:226-231. Lau H, Belmatoug N, Deegan P, Goker-Alpan O, Schwartz IVD, Shankar SP, Panahloo Z, Zimran A. PMID: 27839985.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    33. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. Am J Ophthalmol Case Rep. 2016 Dec; 4:50-53. Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP. PMID: 29503925; PMCID: PMC5757465.
      View in: PubMed   Mentions: 4  
    34. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55. 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, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. PMID: 27509102.
      View in: PubMed   Mentions: 186     Fields:    Translation:HumansCTClinical Trials
    35. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. Drug Des Devel Ther. 2016; 10:1771-81. Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A. PMID: 27307708; PMCID: PMC4887054.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    36. Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. Am J Hematol. 2016 07; 91(7):661-5. Pastores GM, Shankar SP, Petakov M, Giraldo P, Rosenbaum H, Amato DJ, Szer J, Chertkoff R, Brill-Almon E, Zimran A. PMID: 27102949; PMCID: PMC5084808.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCTClinical Trials
    37. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Invest Ophthalmol Vis Sci. 2016 Feb; 57(2):349-59. Shankar SP, Hughbanks-Wheaton DK, Birch DG, Sullivan LS, Conneely KN, Bowne SJ, Stone EM, Daiger SP. PMID: 26842753; PMCID: PMC4736744.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    39. Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. Am J Med Genet A. 2015 Dec; 167A(12):3229-33. Xue Y, Shankar S, Cornell K, Dai Z, Wang CE, Rudd MK, Coffee B. PMID: 26358311.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    40. 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. PLoS One. 2015; 10(8):e0134341. Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK. PMID: 26252393; PMCID: PMC4529213.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCTClinical Trials
    41. Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease. Am J Hematol. 2015 Jul; 90(7):592-7. Elstein D, Mehta A, Hughes DA, Giraldo P, Charrow J, Smith L, Shankar SP, Hangartner TN, Kunes Y, Wang N, Crombez E, Zimran A. PMID: 25776130.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    42. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):61-8. Shapiro EG, Nestrasil I, Rudser K, Delaney K, Kovac V, Ahmed A, Yund B, Orchard PJ, Eisengart J, Niklason GR, Raiman J, Mamak E, Cowan MJ, Bailey-Olson M, Harmatz P, Shankar SP, Cagle S, Ali N, Steiner RD, Wozniak J, Lim KO, Whitley CB. PMID: 26095521; PMCID: PMC4561597.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCTClinical Trials
    43. Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase. Mol Genet Metab. 2016 Feb; 117(2):164-71. Smith L, Rhead W, Charrow J, Shankar SP, Bavdekar A, Longo N, Mardach R, Harmatz P, Hangartner T, Lee HM, Crombez E, Pastores GM. PMID: 26043810.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    44. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis. 2015 May 22; 10:64. Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D. PMID: 25994334; PMCID: PMC4471923.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    45. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS One. 2015; 10(5):e0124987. 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, Tøndel C, Tylki-Szymanska A, Ramaswami U. PMID: 25955246; PMCID: PMC4425695.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    46. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. JAMA Ophthalmol. 2015 May; 133(5):511-7. Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP. PMID: 25675413; PMCID: PMC4449732.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    47. Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa. JIMD Rep. 2015; 23:7-15. Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R. PMID: 25822820; PMCID: PMC4484907.
      View in: PubMed   Mentions: 5  
    48. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17; 313(7):695-706. 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, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. PMID: 25688781; PMCID: PMC4962880.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansCTClinical Trials
    49. 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. J Neuromuscul Dis. 2015; 2(s1):S61-S62. 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. PMID: 27858651.
      View in: PubMed   Mentions: 2     Fields:    
    50. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015 May; 17(5):323-30. Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. PMID: 25232851.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansPHPublic Health
    51. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA. PMID: 25180280; PMCID: PMC4179092.
      View in: PubMed   Mentions: 65     Fields:    Translation:Humans
    52. Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature. Eur J Pediatr. 2014 May; 173(5):671-5. Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Van Laer L, Kogon B. PMID: 24276535.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    53. Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome. Ann Paediatr Rheumatol. 2013 Apr 01; 2(4):165-167. Buterbaugh A, Mroczkowski HJ, Shankar SP, Visootsak J. PMID: 24839582; PMCID: PMC4020180.
      View in: PubMed   Mentions: 1  
    54. Chapter 138 Hereditary Retinal and Choroidal Dystrophies. . 2013 Jan 1; 1-18. Shankar SS. .
      View in: Publisher Site   Mentions:
    55. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. Ophthalmology. 2011 Mar; 118(3):558-63. Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. PMID: 21036400; PMCID: PMC3044822.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    56. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A. 2010 Oct; 152A(10):2574-7. Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. PMID: 20734337.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    57. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. J AAPOS. 2010 Feb; 14(1):93-6. Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T. PMID: 20227630.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    58. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet. 2008 Mar; 29(1):17-24. 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. PMID: 18363168.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    59. Familial cavitary optic disk anomalies: identification of a novel genetic locus. Am J Ophthalmol. 2007 May; 143(5):795-800. Fingert JH, Honkanen RA, Shankar SP, Affatigato LM, Ehlinger MA, Moore MD, Jampol LM, Sheffield VC, Stone EM, Alward WL. PMID: 17368552; PMCID: PMC3684050.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    60. No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol. 2007 Mar; 125(3):434-6. Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM. PMID: 17353431.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    61. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006 Jul; 47(7):3052-64. 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, Daiger SP. PMID: 16799052; PMCID: PMC2585061.
      View in: PubMed   Mentions: 148     Fields:    Translation:Humans
    62. Prioritizing regions of candidate genes for efficient mutation screening. Hum Mutat. 2006 Feb; 27(2):195-200. Braun TA, Shankar SP, Davis S, O'Leary B, Scheetz TE, Clark AF, Sheffield VC, Casavant TL, Stone EM. PMID: 16395665.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    63. Genetic factors modifying clinical expression of autosomal dominant RP. Adv Exp Med Biol. 2006; 572:3-8. Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. PMID: 17249547; PMCID: PMC2581449.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
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