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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: marshall cr. 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.
1q21.1 Microduplication expression in adults.
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. Dolcetti A, et al. Among authors: marshall cr. Genet Med. 2013 Apr;15(4):282-9. doi: 10.1038/gim.2012.129. Epub 2012 Sep 27. Genet Med. 2013. PMID: 23018752 Free PMC article. Review.
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Costain G, et al. Among authors: marshall cr. Hum Mol Genet. 2013 Nov 15;22(22):4485-501. doi: 10.1093/hmg/ddt297. Epub 2013 Jun 27. Hum Mol Genet. 2013. PMID: 23813976 Free PMC article.
Adult expression of a 3q13.31 microdeletion.
Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Among authors: marshall cr. Mol Cytogenet. 2014 Mar 20;7(1):23. doi: 10.1186/1755-8166-7-23. Mol Cytogenet. 2014. PMID: 24650298 Free PMC article.
Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Costain G, Lionel AC, Fu F, Stavropoulos DJ, Gazzellone MJ, Marshall CR, Scherer SW, Bassett AS. Costain G, et al. Among authors: marshall cr. Am J Med Genet B Neuropsychiatr Genet. 2014 Jun;165B(4):337-44. doi: 10.1002/ajmg.b.32236. Epub 2014 May 8. Am J Med Genet B Neuropsychiatr Genet. 2014. PMID: 24807792 Free PMC article.
404 results