Torchia BS - Search Results

1

The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.

Shaffer LG, Coppinger J, Morton SA, Alliman S, Burleson J, Traylor R, Walker C, Byerly S, Lamb AN, Schultz R, Ravnan JB, Kashork CD, Torchia BS, Sulpizio S, Sundin K, Schermer M, Adler K, Dallaire S, Ballif BC. Shaffer LG, et al. Among authors: torchia bs. Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21. Prenat Diagn. 2011. PMID: 21692086

2

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.

Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Coppinger J, et al. Among authors: torchia bs. Prenat Diagn. 2009 Dec;29(12):1156-66. doi: 10.1002/pd.2371. Prenat Diagn. 2009. PMID: 19795450

3

Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.

Lamb AN, Rosenfeld JA, Coppinger J, Dodge ET, Dabell MP, Torchia BS, Ravnan JB, Shaffer LG, Ballif BC. Lamb AN, et al. Among authors: torchia bs. Genet Med. 2012 Nov;14(11):914-21. doi: 10.1038/gim.2012.77. Epub 2012 Jul 5. Genet Med. 2012. PMID: 22766610 Free article.

4

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ. Shaffer LG, et al. Among authors: torchia bs. Prenat Diagn. 2012 Oct;32(10):986-95. doi: 10.1002/pd.3943. Epub 2012 Jul 30. Prenat Diagn. 2012. PMID: 22847778 Free PMC article.

5

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.

Shaffer LG, Dabell MP, Fisher AJ, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Rosenfeld JA. Shaffer LG, et al. Among authors: torchia bs. Prenat Diagn. 2012 Oct;32(10):976-85. doi: 10.1002/pd.3945. Epub 2012 Aug 2. Prenat Diagn. 2012. PMID: 22865506 Free PMC article.

6

Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimens.

Rosenfeld JA, Morton SA, Hummel C, Sulpizio SG, McDaniel LD, Schultz RA, Torchia BS, Ravnan JB, Ellison JW, Fisher AJ. Rosenfeld JA, et al. Among authors: torchia bs. Fetal Diagn Ther. 2014;36(3):231-41. doi: 10.1159/000360081. Epub 2014 Aug 8. Fetal Diagn Ther. 2014. PMID: 25115231

7

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.

Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. Shaffer LG, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):335-45. doi: 10.1002/ajmg.c.30152. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910076 Review.

8

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.

Traylor RN, Fan Z, Hudson B, Rosenfeld JA, Shaffer LG, Torchia BS, Ballif BC. Traylor RN, et al. Among authors: torchia bs. Mol Cytogenet. 2009 Aug 7;2:17. doi: 10.1186/1755-8166-2-17. Mol Cytogenet. 2009. PMID: 19664229 Free PMC article.

9

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.

Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. Neill NJ, et al. Among authors: torchia bs. Mol Cytogenet. 2010 Jun 29;3:11. doi: 10.1186/1755-8166-3-11. Mol Cytogenet. 2010. PMID: 20587050 Free PMC article.

10

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR. Traylor RN, et al. Among authors: torchia bs. PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462. PLoS One. 2010. PMID: 20805988 Free PMC article.

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