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mRNA isoform balance in neuronal development and disease.
LaForce GR, Philippidou P, Schaffer AE. LaForce GR, et al. Wiley Interdiscip Rev RNA. 2023 May-Jun;14(3):e1762. doi: 10.1002/wrna.1762. Epub 2022 Sep 19. Wiley Interdiscip Rev RNA. 2023. PMID: 36123820 Review.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Among authors: laforce g. Res Sq [Preprint]. 2023 Sep doi: 10.21203/ Res Sq. 2023. PMID: 37720017 Free PMC article. Updated. Preprint.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Rasheed A, et al. Among authors: laforce g. J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. J Med Genet. 2021. PMID: 32439809 Free PMC article.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: laforce gr. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.