Pursley AN - Search Results

1

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Wang J, et al. Among authors: pursley an. Mol Genet Metab. 2012 Jun;106(2):221-30. doi: 10.1016/j.ymgme.2012.03.005. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22494545

2

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Zhang S, et al. Mol Genet Metab. 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003. Mol Genet Metab. 2010. PMID: 19815440

3

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Landsverk ML, et al. Among authors: pursley an. Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10. Mol Genet Metab. 2011. PMID: 21482165

4

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: pursley an. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.

5

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Wiszniewska J, et al. Among authors: pursley an. Eur J Hum Genet. 2014 Jan;22(1):79-87. doi: 10.1038/ejhg.2013.77. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695279 Free PMC article.

6

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: pursley an. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.

7

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.

Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Pham J, et al. Eur J Hum Genet. 2014 Aug;22(8):969-78. doi: 10.1038/ejhg.2013.285. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398791 Free PMC article.

8

Challenges in clinical interpretation of microduplications detected by array CGH analysis.

Stankiewicz P, Pursley AN, Cheung SW. Stankiewicz P, et al. Among authors: pursley an. Am J Med Genet A. 2010 May;152A(5):1089-100. doi: 10.1002/ajmg.a.33216. Am J Med Genet A. 2010. PMID: 20425815

9

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Bi W, et al. Among authors: pursley an. Genet Med. 2013 Jun;15(6):450-7. doi: 10.1038/gim.2012.152. Epub 2012 Dec 13. Genet Med. 2013. PMID: 23238528 Free article.

10

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.

Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Simovich MJ, et al. Prenat Diagn. 2007 Dec;27(12):1112-7. doi: 10.1002/pd.1841. Prenat Diagn. 2007. PMID: 17849500

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