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Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages.
Wells MF, Nemesh J, Ghosh S, Mitchell JM, Salick MR, Mello CJ, Meyer D, Pietilainen O, Piccioni F, Guss EJ, Raghunathan K, Tegtmeyer M, Hawes D, Neumann A, Worringer KA, Ho D, Kommineni S, Chan K, Peterson BK, Raymond JJ, Gold JT, Siekmann MT, Zuccaro E, Nehme R, Kaykas A, Eggan K, McCarroll SA. Wells MF, et al. Cell Stem Cell. 2023 Mar 2;30(3):312-332.e13. doi: 10.1016/j.stem.2023.01.010. Epub 2023 Feb 15. Cell Stem Cell. 2023. PMID: 36796362 Free PMC article.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF. Scala M, et al. Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158856 Free article.
C9orf72 suppresses systemic and neural inflammation induced by gut bacteria.
Burberry A, Wells MF, Limone F, Couto A, Smith KS, Keaney J, Gillet G, van Gastel N, Wang JY, Pietilainen O, Qian M, Eggan P, Cantrell C, Mok J, Kadiu I, Scadden DT, Eggan K. Burberry A, et al. Nature. 2020 Jun;582(7810):89-94. doi: 10.1038/s41586-020-2288-7. Epub 2020 May 13. Nature. 2020. PMID: 32483373 Free PMC article.