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Glaucoma Following Cataract Surgery in Children-Finally, a Clue. JAMA Ophthalmol. 2023 09 01; 141(9):880-881.
Brandt JD, Shankar SP. PMID: 37590009.
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PubMed Mentions: Fields:
Translation:
Humans
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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:
5
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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, 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.
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PubMed Mentions: Fields:
Translation:
Humans
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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:
2 Fields:
-
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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
HumansCells
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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:
-
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.
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PubMed Mentions:
6 Fields:
Translation:
HumansAnimals
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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
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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:
5 Fields:
Translation:
Humans
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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:
5 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
3 Fields:
Translation:
Humans
-
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
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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.
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PubMed Mentions:
14 Fields:
Translation:
HumansCTClinical Trials
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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:
16 Fields:
Translation:
Humans
-
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, Wigby K, Zadeh N, Farnaes L. PMID: 34089648; PMCID: PMC8322922.
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PubMed Mentions:
92 Fields:
Translation:
Humans
-
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; PMCID: PMC11512516.
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PubMed Mentions:
4 Fields:
Translation:
Humans
-
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:
35 Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions:
4 Fields:
Translation:
Humans
-
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:
39 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
17 Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
-
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.
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PubMed Mentions:
1 Fields:
Translation:
Humans
-
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:
7 Fields:
Translation:
HumansAnimalsCells
-
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:
5 Fields:
Translation:
Humans
-
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.
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PubMed Mentions:
16 Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions:
45 Fields:
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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:
37 Fields:
Translation:
HumansCTClinical Trials
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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
-
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:
146 Fields:
Translation:
HumansCellsCTClinical Trials
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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.
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PubMed Mentions:
12 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
4
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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:
212 Fields:
Translation:
HumansCTClinical Trials
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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:
9 Fields:
Translation:
HumansCTClinical Trials
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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
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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:
17 Fields:
Translation:
HumansCells
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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.
Levinson JD, Yan J, Lambert SR, Shankar SP. PMID: 26584329; PMCID: PMC4871792.
View in:
PubMed Mentions:
2 Fields:
Translation:
Humans
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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
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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:
28 Fields:
Translation:
HumansCTClinical Trials
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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:
8 Fields:
Translation:
HumansCTClinical Trials
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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:
37 Fields:
Translation:
HumansCTClinical Trials
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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:
11 Fields:
Translation:
HumansCTClinical Trials
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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:
17 Fields:
Translation:
Humans
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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
-
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:
10 Fields:
Translation:
HumansCells
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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:
6
-
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:
64 Fields:
Translation:
HumansCTClinical Trials
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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:
-
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
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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:
73 Fields:
Translation:
Humans
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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.
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Humans
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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.
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Chapter 138 Hereditary Retinal and Choroidal Dystrophies. . 2013 Jan 1; 1-18.
Shankar SS. .
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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.
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HumansCells
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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.
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12 Fields:
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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.
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6 Fields:
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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.
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55 Fields:
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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.
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9 Fields:
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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.
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27 Fields:
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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.
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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.
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4 Fields:
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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.
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5 Fields:
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Humans