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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: taylor d. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 Free PMC article.
Rare copy number variants in patients with congenital conotruncal heart defects.
Xie HM, Werner P, Stambolian D, Bailey-Wilson JE, Hakonarson H, White PS, Taylor DM, Goldmuntz E. Xie HM, et al. Among authors: taylor dm. Birth Defects Res. 2017 Mar 1;109(4):271-295. doi: 10.1002/bdra.23609. Epub 2017 Feb 13. Birth Defects Res. 2017. PMID: 28398664 Free PMC article.
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E. Xie HM, et al. Among authors: taylor dm. Birth Defects Res. 2019 Aug 1;111(13):888-905. doi: 10.1002/bdr2.1534. Epub 2019 Jun 20. Birth Defects Res. 2019. PMID: 31222980 Free PMC article.
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Pastor S, Tran O, Jin A, Carrado D, Silva BA, Uppuluri L, Abid HZ, Young E, Crowley TB, Bailey AG, McGinn DE, McDonald-McGinn DM, Zackai EH, Xie M, Taylor D, Morrow BE, Xiao M, Emanuel BS. Pastor S, et al. Among authors: taylor d. Sci Rep. 2020 Jul 22;10(1):12235. doi: 10.1038/s41598-020-69134-4. Sci Rep. 2020. PMID: 32699385 Free PMC article.
793 results