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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
Altered subgenomic RNA abundance provides unique insight into SARS-CoV-2 B.1.1.7/Alpha variant infections.
Parker MD, Stewart H, Shehata OM, Lindsey BB, Shah DR, Hsu S, Keeley AJ, Partridge DG, Leary S, Cope A, State A, Johnson K, Ali N, Raghei R, Heffer J, Smith N, Zhang P, Gallis M, Louka SF, Hornsby HR, Alamri H, Whiteley M, Foulkes BH, Christou S, Wolverson P, Pohare M, Hansford SE, Green LR, Evans C, Raza M, Wang D, Firth AE, Edgar JR, Gaudieri S, Mallal S; COVID-19 Genomics UK (COG-UK) consortium; Collins MO, Peden AA, de Silva TI. Parker MD, et al. Commun Biol. 2022 Jul 5;5(1):666. doi: 10.1038/s42003-022-03565-9. Commun Biol. 2022. PMID: 35790808 Free PMC article.