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Page 1
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Among authors: childers a. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Fang X, Hilton B, Clarkson K, Rogers RC, Schroer R, Childers A, Patterson WG, Davis JM, Everman DB, DuPont BR. Fang X, et al. Among authors: childers a. Cytogenet Genome Res. 2023;163(1-2):14-23. doi: 10.1159/000533218. Epub 2023 Jul 27. Cytogenet Genome Res. 2023. PMID: 37497920 Free article.
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. Chettle J, et al. Among authors: childers a. HGG Adv. 2024 Oct 10;5(4):100345. doi: 10.1016/j.xhgg.2024.100345. Epub 2024 Aug 30. HGG Adv. 2024. PMID: 39182167 Free PMC article.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: childers a. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
73 results