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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.
Nat Genet. 2010.
PMID: 20154674
Free PMC article.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.
Stankiewicz P, et al. Among authors: banks vc.
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.
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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG.
Rosenfeld JA, et al. Among authors: banks vc.
Eur J Hum Genet. 2011 May;19(5):547-54. doi: 10.1038/ejhg.2010.237. Epub 2011 Jan 19.
Eur J Hum Genet. 2011.
PMID: 21248749
Free PMC article.
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