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Suma Shankar

Title(s)Associate Professor, General Pediatrics
SchoolUniversity of California, Davis
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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.
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    1. Safi M, Nejad SK, O'Hara M, Shankar SP. 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. PMID: 31282960.
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    2. 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. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 Jun 20. PMID: 31222966.
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    3. Tullius BP, Shankar SP, Cole S, Triano V, Aradhya S, Huang EC, Sanchez T, Pawar A. 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 Aug; 66(8):e27788. PMID: 31038288.
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    4. 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. 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. PMID: 30987917.
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    5. 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. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Am J Med Genet A. 2019 Jun; 179(6):1091-1097. PMID: 30908877.
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    6. 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. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. Am J Med Genet A. 2018 Dec; 176(12):2924-2929. PMID: 30302932.
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    7. 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. Am J Med Genet A. 2018 Aug; 176(8):1778-1783. PMID: 30055036.
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    8. 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. 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. PMID: 29703262.
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    9. 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. 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. PMID: 29649853.
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    10. 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. 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. PMID: 28762527.
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    11. 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 Genet. 2018 Jan-Feb; 39(1):99-102. PMID: 28820624.
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    12. 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. 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. PMID: 27834756.
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    13. Lau H, Belmatoug N, Deegan P, Goker-Alpan O, Schwartz IVD, Shankar SP, Panahloo Z, Zimran A. 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. PMID: 27839985.
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    14. Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP. 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. PMID: 29503925.
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    15. 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. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11; 375(6):545-55. PMID: 27509102.
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    16. Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A. 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. PMID: 27307708.
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    17. 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. Am J Hematol. 2016 07; 91(7):661-5. PMID: 27102949.
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    18. 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. Invest Ophthalmol Vis Sci. 2016 Feb; 57(2):349-59. PMID: 26842753.
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    19. 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. Retin Cases Brief Rep. 2016; 10(3):267-72. PMID: 26584329.
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    20. Xue Y, Shankar S, Cornell K, Dai Z, Wang CE, Rudd MK, Coffee B. 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. PMID: 26358311.
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    21. 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. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active a-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. PLoS One. 2015; 10(8):e0134341. PMID: 26252393.
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    22. 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. Am J Hematol. 2015 Jul; 90(7):592-7. PMID: 25776130.
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    23. 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. Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):61-8. PMID: 26095521.
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    24. 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. Mol Genet Metab. 2016 Feb; 117(2):164-71. PMID: 26043810.
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    25. 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 J Rare Dis. 2015 May 22; 10:64. PMID: 25994334.
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    26. 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. 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. PMID: 25955246.
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    27. 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 Ophthalmol. 2015 May; 133(5):511-7. PMID: 25675413.
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    28. Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R. 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. PMID: 25822820.
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    29. 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. 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. PMID: 25688781.
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    30. 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. J Neuromuscul Dis. 2015; 2(s1):S61-S62. PMID: 27858651.
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    31. Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med. 2015 May; 17(5):323-30. PMID: 25232851.
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    32. 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. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014 Oct; 134(4):e1149-62. PMID: 25180280.
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    33. Hebson C, Coleman K, Clabby M, Sallee D, Shankar S, Loeys B, Van Laer L, Kogon B. 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. PMID: 24276535.
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    34. Buterbaugh A, Mroczkowski HJ, Shankar SP, Visootsak J. Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome. Ann Paediatr Rheumatol. 2013 Apr 01; 2(4):165-167. PMID: 24839582.
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    35. 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. 2011 Mar; 118(3):558-63. PMID: 21036400.
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    36. 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. Am J Med Genet A. 2010 Oct; 152A(10):2574-7. PMID: 20734337.
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    37. 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. J AAPOS. 2010 Feb; 14(1):93-6. PMID: 20227630.
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    38. 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 Genet. 2008 Mar; 29(1):17-24. PMID: 18363168.
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    39. 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. Am J Ophthalmol. 2007 May; 143(5):795-800. PMID: 17368552.
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    40. 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. Arch Ophthalmol. 2007 Mar; 125(3):434-6. PMID: 17353431.
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    41. 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. 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. PMID: 16799052.
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    42. 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. Hum Mutat. 2006 Feb; 27(2):195-200. PMID: 16395665.
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    43. 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. Adv Exp Med Biol. 2006; 572:3-8. PMID: 17249547.
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