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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.
Protective effect of ischaemic preconditioning on acute and chronic renal damage following ischaemia reperfusion injury: characterisation of fibrosis development after inflammation resolution.
Brown CV, Pino-Chavez G, Zaidi A, Grigorieva I, Woods E, Steadman R, Chavez R, Meran S, Khalid U. Brown CV, et al. Among authors: woods e. Int J Clin Exp Pathol. 2024 Apr 15;17(4):151-164. doi: 10.62347/MFJG1164. eCollection 2024. Int J Clin Exp Pathol. 2024. PMID: 38716349 Free PMC article.
Development and Testing of the Relational and Structural Components of Innovativeness Across Academia and Practice for Healthcare Progress Scale.
Joseph ML, Williams M, Reinke K, Bair H, Chae S, Hanrahan K, St Marie B, Jenkins P, Albert NM, Gullatte MM, Rogers DM, Swan BA, Holden T, Woods E, DeGuzman PB, DeGennaro G, Marshall D, Hein M, Perkhounkova Y, Huber DL. Joseph ML, et al. Among authors: woods e. J Nurs Adm. 2024 May 1;54(5):260-269. doi: 10.1097/NNA.0000000000001422. J Nurs Adm. 2024. PMID: 38630941
Unraveling the Enigma of Organismal Death: Insights, Implications, and Frontiers.
Noble PA, Pozhitkov A, Singh K, Woods E, Liu C, Levin M, Javan G, Wan J, Abouhashem AS, Mathew-Steiner SS, Sen CK. Noble PA, et al. Among authors: woods e. Physiology (Bethesda). 2024 Apr 16. doi: 10.1152/physiol.00004.2024. Online ahead of print. Physiology (Bethesda). 2024. PMID: 38624244 Review.
528 results