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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, Abudi S, Eliyahu A, Tirosh I, Shpilman S, Shril S, Hildebrandt F, Shohat M, Anikster Y. Pode-Shakked B, et al. Among authors: vivante a. BMC Med Genet. 2019 Mar 29;20(1):53. doi: 10.1186/s12881-019-0787-x. BMC Med Genet. 2019. PMID: 30922245 Free PMC article.
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
Tirosh I, Spielman S, Barel O, Ram R, Stauber T, Paret G, Rubinsthein M, Pessach IM, Gerstein M, Anikster Y, Shukrun R, Dagan A, Adler K, Pode-Shakked B, Volkov A, Perelman M, Greenberger S, Somech R, Lahav E, Majmundar AJ, Padeh S, Hildebrandt F, Vivante A. Tirosh I, et al. Among authors: vivante a. Pediatr Rheumatol Online J. 2019 Jul 30;17(1):52. doi: 10.1186/s12969-019-0349-y. Pediatr Rheumatol Online J. 2019. PMID: 31362757 Free PMC article.
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.
Chorin O, Chowers G, Agbariah R, Karklinsky S, Barel O, Bar-Joseph I, Reznik-Wolf H, Shamash J, Pode-Shakked B, Jacobson JM, Huna-Baron R, Redler Y, Tirosh I, Vivante A, Raas-Rothschild A. Chorin O, et al. Among authors: vivante a. Eur J Med Genet. 2022 Jan;65(1):104383. doi: 10.1016/j.ejmg.2021.104383. Epub 2021 Nov 16. Eur J Med Genet. 2022. PMID: 34798323
102 results