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PubMed for id: 1859877414

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M; University of Washington Center for Mendelian Genomics; Chong JX, Bamshad MJ, Innes AM, Pierson TM, Mackay JP, Bielas SL, Martin DM. Werren EA, et al. HGG Adv. 2023 Apr 20;4(3):100198. doi: 10.1016/j.xhgg.2023.100198. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37181331 Free PMC article.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T. Dias KR, et al. Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35916866 Free article.
GATA zinc finger domain-containing protein 2A (GATAD2A) deficiency reactivates fetal haemoglobin in patients with β-thalassaemia through impaired formation of methyl-binding domain protein 2 (MBD2)-containing nucleosome remodelling and deacetylation (NuRD) complex.
Liang Y, Zhang X, Liu Y, Wang L, Ye Y, Tan X, Pu J, Zhang Q, Bao X, Wei X, Li D, Kurita R, Nakamura Y, Li D, Xu X. Liang Y, et al. Br J Haematol. 2021 Jun;193(6):1220-1227. doi: 10.1111/bjh.17511. Epub 2021 May 17. Br J Haematol. 2021. PMID: 33997955