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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR; Undiagnosed Diseases Network; Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. Tambe MA, et al. Among authors: shimada s. J Inherit Metab Dis. 2020 Sep;43(5):1037-1045. doi: 10.1002/jimd.12249. Epub 2020 Jun 3. J Inherit Metab Dis. 2020. PMID: 32395830 Free PMC article.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS. Kuo ME, et al. Among authors: shimada s. Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26. Am J Hum Genet. 2019. PMID: 30824121 Free PMC article.
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D; Undiagnosed Diseases Network; Malicdan MC, Schedl T, Pak SC. Boulin T, et al. Among authors: shimada s. Mol Genet Metab. 2021 Sep-Oct;134(1-2):195-202. doi: 10.1016/j.ymgme.2021.07.013. Epub 2021 Aug 9. Mol Genet Metab. 2021. PMID: 34412939 Free PMC article.
Fever in childbirth: a mini-review of epidural-related maternal fever.
Kinishi Y, Koyama Y, Yuba T, Fujino Y, Shimada S. Kinishi Y, et al. Among authors: shimada s. Front Neurosci. 2024 Apr 19;18:1389132. doi: 10.3389/fnins.2024.1389132. eCollection 2024. Front Neurosci. 2024. PMID: 38707593 Free PMC article. Review.
1,815 results