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MDA5 gain-of-function associated with a Glu794del mutation.
Wong C, Gerasimavicius L, Crow YJ, Uggenti C; E794del consortium. Wong C, et al. J Clin Immunol. 2024 Oct 2;45(1):20. doi: 10.1007/s10875-024-01813-7. J Clin Immunol. 2024. PMID: 39356338 Free PMC article. No abstract available.
Tracking clonal evolution of drug resistance in ovarian cancer patients by exploiting structural variants in cfDNA.
Williams MJ, Vázquez-García I, Tam G, Wu M, Varice N, Havasov E, Shi H, Satas G, Lees HJ, Lee JJ, Myers MA, Zatzman M, Rusk N, Ali E, Shah RH, Berger MF, Mohibullah N, Lakhman Y, Chi DS, Abu-Rustum NR, Aghajanian C, McPherson A, Zamarin D, Loomis B, Weigelt B, Friedman CF, Shah SP. Williams MJ, et al. Among authors: lees hj. bioRxiv [Preprint]. 2024 Aug 23:2024.08.21.609031. doi: 10.1101/2024.08.21.609031. bioRxiv. 2024. PMID: 39229105 Free PMC article. Preprint.
Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency.
Marin-Valencia I, Kocabas A, Rodriguez-Navas C, Miloushev VZ, González-Rodríguez M, Lees H, Henry KE, Vaynshteyn J, Longo V, Deh K, Eskandari R, Mamakhanyan A, Berishaj M, Keshari KR. Marin-Valencia I, et al. Among authors: lees h. Cell Metab. 2024 Jun 4;36(6):1394-1410.e12. doi: 10.1016/j.cmet.2024.05.002. Cell Metab. 2024. PMID: 38838644
134 results