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Page 1
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M, Wegner DJ, Paul AJ, Buchser W, Schmidt R, Sharma J, Sardiello M, Sisco K, Manwaring L, Reynolds M, Fulton R, Fronick C, Shaver A, Huang TY, Carroll A, Roessler K, Halpern AL; Undiagnosed Diseases Network; Dickson PI, Wambach JA. Shinawi M, et al. Mol Genet Metab. 2025 Jan;144(1):109004. doi: 10.1016/j.ymgme.2024.109004. Epub 2024 Dec 24. Mol Genet Metab. 2025. PMID: 39742826
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Among authors: shinawi m. Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22. Mol Genet Metab. 2023. PMID: 37392700 Free PMC article.
Primary Mitochondrial Disorders in the Neonate.
Starosta RT, Shinawi M. Starosta RT, et al. Among authors: shinawi m. Neoreviews. 2022 Dec 1;23(12):e796-e812. doi: 10.1542/neo.23-12-e796. Neoreviews. 2022. PMID: 36450643 Review.
MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks.
Mathias B, O'Leary D, Saucier N, Ahmad F, White LS, Russell L, Shinawi M, Smith MJ, Abraham RS, Cooper MA, Kitcharoensakkul M, Green AM, Bednarski JJ. Mathias B, et al. Among authors: shinawi m. J Allergy Clin Immunol. 2024 Apr;153(4):1113-1124.e7. doi: 10.1016/j.jaci.2023.12.001. Epub 2023 Dec 6. J Allergy Clin Immunol. 2024. PMID: 38065233 Free PMC article.
266 results