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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: ballif bc. 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.
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG. Rosenfeld JA, et al. Among authors: ballif bc. Eur J Med Genet. 2011 Jan-Feb;54(1):42-9. doi: 10.1016/j.ejmg.2010.10.002. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20951845
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: ballif bc. 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.
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Rosenfeld JA, et al. Among authors: ballif bc. Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744490
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. Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29. Hum Genet. 2012. PMID: 21800092
91 results