Shaffer LG - Search Results

1

An instructive case of an 8-year-old boy with intellectual disability.

Srour M, Bejjani BA, Rorem EA, Hall N, Shaffer LG, Shevell MI. Srour M, et al. Among authors: shaffer lg. Semin Pediatr Neurol. 2008 Dec;15(4):154-5; discussion 155-6. doi: 10.1016/j.spen.2008.09.002. Semin Pediatr Neurol. 2008. PMID: 19073314

2

Array comparative genomic hybridization in global developmental delay.

Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Shevell MI, et al. Among authors: shaffer lg. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1101-8. doi: 10.1002/ajmg.b.30730. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 18361433

3

Medical applications of array CGH and the transformation of clinical cytogenetics.

Shaffer LG, Bejjani BA. Shaffer LG, et al. Cytogenet Genome Res. 2006;115(3-4):303-9. doi: 10.1159/000095928. Cytogenet Genome Res. 2006. PMID: 17124414 Review.

4

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.

Kleeman L, Bianchi DW, Shaffer LG, Rorem E, Cowan J, Craigo SD, Tighiouart H, Wilkins-Haug LE. Kleeman L, et al. Among authors: shaffer lg. Prenat Diagn. 2009 Dec;29(13):1213-7. doi: 10.1002/pd.2367. Prenat Diagn. 2009. PMID: 19862770 Free PMC article. Clinical Trial.

5

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. Among authors: shaffer lg. 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

6

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: shaffer lg. Genet Med. 2007 Mar;9(3):150-62. doi: 10.1097/gim.0b013e3180312087. Genet Med. 2007. PMID: 17413419 Free article.

7

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: shaffer lg. 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

8

Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.

Kashork CD, Theisen A, Bejjani BA, Shaffer LG. Kashork CD, et al. Among authors: shaffer lg. Cytogenet Genome Res. 2006;114(3-4):379-83. doi: 10.1159/000094228. Cytogenet Genome Res. 2006. PMID: 16954681

9

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: shaffer lg. 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

10

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. J Pediatr. 2006 Jul;149(1):98-102. doi: 10.1016/j.jpeds.2006.02.006. J Pediatr. 2006. PMID: 16860135

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