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First Steps toward Personalized Therapies for ABCA3 Deficiency.
Wambach JA, Nogee LM, Cole FS. Wambach JA, et al. Am J Respir Cell Mol Biol. 2022 Apr;66(4):349-350. doi: 10.1165/rcmb.2021-0405ED. Am J Respir Cell Mol Biol. 2022. PMID: 35077664 Free PMC article. No abstract available.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. Rosano KK, et al. Am J Med Genet A. 2021 Jul;185(7):2190-2197. doi: 10.1002/ajmg.a.62219. Epub 2021 May 1. Am J Med Genet A. 2021. PMID: 33931933 Free PMC article.
Functional Genomics of ABCA3 Variants.
Wambach JA, Yang P, Wegner DJ, Heins HB, Luke C, Li F, White FV, Cole FS. Wambach JA, et al. Am J Respir Cell Mol Biol. 2020 Oct;63(4):436-443. doi: 10.1165/rcmb.2020-0034MA. Am J Respir Cell Mol Biol. 2020. PMID: 32692933 Free PMC article.
23 results