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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16.
Am J Hum Genet. 2023.
PMID: 37196654
Free PMC article.
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: jakub te.
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.
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Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the Drosophila mushroom body.
Chubak MC, Nixon KCJ, Stone MH, Raun N, Rice SL, Sarikahya M, Jones SG, Lyons TA, Jakub TE, Mainland RLM, Knip MJ, Edwards TN, Kramer JM.
Chubak MC, et al. Among authors: jakub te.
Dis Model Mech. 2019 Mar 25;12(3):dmm037325. doi: 10.1242/dmm.037325.
Dis Model Mech. 2019.
PMID: 30923190
Free PMC article.
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