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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.
Hum Mutat. 2012.
PMID: 21948486
Free PMC article.
Global increases in both common and rare copy number load associated with autism.
Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB.
Girirajan S, et al.
Hum Mol Genet. 2013 Jul 15;22(14):2870-80. doi: 10.1093/hmg/ddt136. Epub 2013 Mar 27.
Hum Mol Genet. 2013.
PMID: 23535821
Free PMC article.
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Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Sansović I, Ivankov AM, Bobinec A, Kero M, Barišić I.
Sansović I, et al.
Croat Med J. 2017 Jun 14;58(3):231-238. doi: 10.3325/cmj.2017.58.231.
Croat Med J. 2017.
PMID: 28613040
Free PMC article.
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