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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: goula a. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
H3K4 methylation by SETD1A/BOD1L facilitates RIF1-dependent NHEJ.
Bayley R, Borel V, Moss RJ, Sweatman E, Ruis P, Ormrod A, Goula A, Mottram RMA, Stanage T, Hewitt G, Saponaro M, Stewart GS, Boulton SJ, Higgs MR. Bayley R, et al. Among authors: goula a. Mol Cell. 2022 May 19;82(10):1924-1939.e10. doi: 10.1016/j.molcel.2022.03.030. Epub 2022 Apr 18. Mol Cell. 2022. PMID: 35439434 Free PMC article.
48 results