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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: woods e. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Expanding the phenotype of TAB2 variants and literature review.
Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M. Woods E, et al. Am J Med Genet A. 2022 Nov;188(11):3331-3342. doi: 10.1002/ajmg.a.62949. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35971781 Free PMC article.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Schönauer R, et al. Among authors: woods e. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18. Am J Hum Genet. 2023. PMID: 37207645 Free PMC article.
Covalent-fragment screening identifies selective inhibitors of multiple Staphylococcus aureus serine hydrolases important for growth and biofilm formation.
Bogyo M, Upadhyay T, Woods E, Ahator S, Julin K, Faucher F, Hollander M, Pedowitz N, Abegg D, Hammond I, Eke I, Wang S, Chen S, Bennett J, Jo J, Lentz C, Adibekian A, Fellner M. Bogyo M, et al. Among authors: woods e. Res Sq [Preprint]. 2024 Dec 13:rs.3.rs-5494070. doi: 10.21203/rs.3.rs-5494070/v1. Res Sq. 2024. PMID: 39711551 Free PMC article. Preprint.
An mRNA Display Approach for Covalent Targeting of a Staphylococcus aureus Virulence Factor.
Wang S, Woods EC, Jo J, Zhu J, Hansel-Harris A, Holcomb M, Pedowitz NJ, Upadhyay T, Bennett J, Fellner M, Park KW, Zhang A, Valdez TA, Forli S, Chan AI, Cunningham CN, Bogyo M. Wang S, et al. Among authors: woods ec. bioRxiv [Preprint]. 2024 Nov 8:2024.11.06.622387. doi: 10.1101/2024.11.06.622387. bioRxiv. 2024. PMID: 39574702 Free PMC article. Preprint.
552 results