Bejjani BA - Search Results

1

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: bejjani ba. Clin Genet. 2008 Nov;74(5):469-75. doi: 10.1111/j.1399-0004.2008.01094.x. Epub 2008 Sep 20. Clin Genet. 2008. PMID: 18811697

2

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. 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.

3

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

Bejjani BA, Saleki R, Ballif BC, Rorem EA, Sundin K, Theisen A, Kashork CD, Shaffer LG. Bejjani BA, et al. Am J Med Genet A. 2005 Apr 30;134(3):259-67. doi: 10.1002/ajmg.a.30621. Am J Med Genet A. 2005. PMID: 15723295

4

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. Shaffer LG, et al. Among authors: bejjani ba. J Pediatr. 2006 Jul;149(1):98-102. doi: 10.1016/j.jpeds.2006.02.006. J Pediatr. 2006. PMID: 16860135

5

Application of array-based comparative genomic hybridization to clinical diagnostics.

Bejjani BA, Shaffer LG. Bejjani BA, et al. J Mol Diagn. 2006 Nov;8(5):528-33. doi: 10.2353/jmoldx.2006.060029. J Mol Diagn. 2006. PMID: 17065418 Free PMC article. Review.

6

Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA. Ballif BC, et al. Among authors: bejjani ba. Am J Med Genet A. 2006 Dec 15;140(24):2757-67. doi: 10.1002/ajmg.a.31539. Am J Med Genet A. 2006. PMID: 17103431

7

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.

Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: bejjani ba. Genet Med. 2007 Mar;9(3):150-62. doi: 10.1097/gim.0b013e3180312087. Genet Med. 2007. PMID: 17413419 Free article.

8

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: bejjani ba. 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

9

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: bejjani ba. Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704777

10

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Among authors: bejjani ba. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

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