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Genetic regulation of TERT splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.
Florez-Vargas O, Ho M, Hogshead M, Lee CH, Papenberg BW, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, Gadalla S, Savage SA, Mbulaiteye SM, Prokunina-Olsson L. Florez-Vargas O, et al. Among authors: savage sa. medRxiv [Preprint]. 2024 Nov 5:2024.11.04.24316722. doi: 10.1101/2024.11.04.24316722. medRxiv. 2024. PMID: 39802763 Free PMC article. Preprint.
A multidisciplinary weight management intervention for adults with severe mental illness in forensic psychiatric inpatient services (Motiv8): a single blind cluster-randomised wait-list controlled feasibility trial.
Carney R, Law H, El-Metaal H, Hann M, Shields G, Savage S, Small I, Jones R, Shiers D, Macafee G, Parker S. Carney R, et al. Among authors: savage s. Front Psychiatry. 2024 Nov 18;15:1457864. doi: 10.3389/fpsyt.2024.1457864. eCollection 2024. Front Psychiatry. 2024. PMID: 39624512 Free PMC article.
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Kvarnung M, Pettersson M, Chun-On P, Rafati M, McReynolds LJ, Norberg A, Moura PL, Pesonen I, Chaireti R, Grönros Söderholm B, Burlin J, Rydén J, Lindberg EH, Giri N, Savage SA, Agarwal S, Nordgren A, Tesi B. Kvarnung M, et al. Among authors: savage sa. Eur J Hum Genet. 2024 Nov 30. doi: 10.1038/s41431-024-01722-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39616267
Characterization of sarcoma topography in Li-Fraumeni syndrome.
Brockman KJ, Thompson MB, Mirabello L, Savage SA, Malayeri A, Hatton JN, Khincha PP. Brockman KJ, et al. Among authors: savage sa. Front Oncol. 2024 Nov 7;14:1415636. doi: 10.3389/fonc.2024.1415636. eCollection 2024. Front Oncol. 2024. PMID: 39575416 Free PMC article.
865 results