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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, Gothelf D, Swillen A, Breckpot J, Vermeesch JR, Eliez S, Schneider M, van den Bree MBM, Owen MJ, Kates WR, Repetto GM, Shashi V, Schoch K, Bearden CE, Digilio MC, Unolt M, Putotto C, Marino B, Pontillo M, Armando M, Vicari S, Angkustsiri K, Campbell L, Busa T, Heine-Suñer D, Murphy KC, Murphy D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhang ZD, Goldmuntz E, Gur RE, Emanuel BS, Zheng D, Marshall CR, Bassett AS, Wang T, Morrow BE. Zhao Y, et al. Among authors: zhang zd. NPJ Genom Med. 2023 Jul 18;8(1):17. doi: 10.1038/s41525-023-00363-y. NPJ Genom Med. 2023. PMID: 37463940 Free PMC article.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium. Demaerel W, et al. Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965848 Free PMC article. Retracted.
HEDD: Human Enhancer Disease Database.
Wang Z, Zhang Q, Zhang W, Lin JR, Cai Y, Mitra J, Zhang ZD. Wang Z, et al. Among authors: zhang zd, zhang q, zhang w. Nucleic Acids Res. 2018 Jan 4;46(D1):D113-D120. doi: 10.1093/nar/gkx988. Nucleic Acids Res. 2018. PMID: 29077884 Free PMC article.
PGA: post-GWAS analysis for disease gene identification.
Lin JR, Jaroslawicz D, Cai Y, Zhang Q, Wang Z, Zhang ZD. Lin JR, et al. Among authors: zhang zd, zhang q. Bioinformatics. 2018 May 15;34(10):1786-1788. doi: 10.1093/bioinformatics/btx845. Bioinformatics. 2018. PMID: 29300829 Free PMC article.
592 results