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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: shaffer lg. Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29. Hum Genet. 2012. PMID: 21800092
The clinical utility of enhanced subtelomeric coverage in array CGH.
Ballif BC, Sulpizio SG, Lloyd RM, Minier SL, Theisen A, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: shaffer lg. Am J Med Genet A. 2007 Aug 15;143A(16):1850-7. doi: 10.1002/ajmg.a.31842. Am J Med Genet A. 2007. PMID: 17632771
Clinical utility of contemporary molecular cytogenetics.
Bejjani BA, Shaffer LG. Bejjani BA, et al. Among authors: shaffer lg. Annu Rev Genomics Hum Genet. 2008;9:71-86. doi: 10.1146/annurev.genom.9.081307.164207. Annu Rev Genomics Hum Genet. 2008. PMID: 18949852 Review.
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: shaffer lg. Hum Mol Genet. 2009 Apr 15;18(8):1377-83. doi: 10.1093/hmg/ddp042. Epub 2009 Feb 3. Hum Mol Genet. 2009. PMID: 19193630 Free PMC article.
354 results