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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
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. Shankar SP, et al. Genet Med. 2022 Oct;24(10):2207. doi: 10.1016/j.gim.2022.07.021. Genet Med. 2022. PMID: 36205747 Free PMC article. No abstract available.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
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. Shankar SP, et al. Among authors: shankar pr. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
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. Gripp KW, et al. Among authors: shankar sp. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
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. Kontaridis MI, et al. Among authors: shankar sp. Am J Med Genet A. 2022 Jun;188(6):1915-1927. doi: 10.1002/ajmg.a.62716. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266292 Free PMC article.
Retinal dystrophies: A look beyond the eyes.
Tang VD, Egense A, Yiu G, Meyers E, Moshiri A, Shankar SP. Tang VD, et al. Among authors: shankar sp. Am J Ophthalmol Case Rep. 2022 Jun 11;27:101613. doi: 10.1016/j.ajoc.2022.101613. eCollection 2022 Sep. Am J Ophthalmol Case Rep. 2022. PMID: 35756836 Free PMC article.
Prader-Willi and Angelman Syndromes: Mechanisms and Management.
Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP. Ma VK, et al. Among authors: shankar sp. Appl Clin Genet. 2023 Apr 6;16:41-52. doi: 10.2147/TACG.S372708. eCollection 2023. Appl Clin Genet. 2023. PMID: 37051256 Free PMC article. Review.
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
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. Rauen KA, et al. Am J Med Genet A. 2018 Dec;176(12):2924-2929. doi: 10.1002/ajmg.a.40632. Epub 2018 Oct 10. Am J Med Genet A. 2018. PMID: 30302932 Free PMC article.
71 results