Biegel JA - Search Results

1

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M. Babushok DV, et al. Among authors: biegel ja. Br J Haematol. 2014 Jan;164(1):73-82. doi: 10.1111/bjh.12603. Epub 2013 Oct 14. Br J Haematol. 2014. PMID: 24116929 Free PMC article.

2

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.

Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA. Jackson EM, et al. Among authors: biegel ja. Am J Med Genet A. 2007 Aug 1;143A(15):1767-70. doi: 10.1002/ajmg.a.31843. Am J Med Genet A. 2007. PMID: 17603804

3

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.

Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Sievert AJ, et al. Among authors: biegel ja. Brain Pathol. 2009 Jul;19(3):449-58. doi: 10.1111/j.1750-3639.2008.00225.x. Epub 2008 Oct 21. Brain Pathol. 2009. PMID: 19016743 Free PMC article.

4

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

Attiyeh EF, Diskin SJ, Attiyeh MA, Mossé YP, Hou C, Jackson EM, Kim C, Glessner J, Hakonarson H, Biegel JA, Maris JM. Attiyeh EF, et al. Among authors: biegel ja. Genome Res. 2009 Feb;19(2):276-83. doi: 10.1101/gr.075671.107. Epub 2009 Jan 13. Genome Res. 2009. PMID: 19141597 Free PMC article.

5

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.

Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Jackson EM, et al. Among authors: biegel ja. Clin Cancer Res. 2009 Mar 15;15(6):1923-30. doi: 10.1158/1078-0432.CCR-08-2091. Epub 2009 Mar 10. Clin Cancer Res. 2009. PMID: 19276269 Free PMC article.

6

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies.

Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA. Dougherty MJ, et al. Among authors: biegel ja. Cancer Genet. 2011 Jan;204(1):26-38. doi: 10.1016/j.cancergencyto.2010.10.007. Cancer Genet. 2011. PMID: 21356189

7

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Goldmuntz E, et al. Among authors: biegel ja. Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20. Congenit Heart Dis. 2011. PMID: 22010865 Free PMC article.

8

Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors.

Dougherty MJ, Tooke LS, Sullivan LM, Hakonarson H, Wainwright LM, Biegel JA. Dougherty MJ, et al. Among authors: biegel ja. Cancer Genet. 2012 Jan-Feb;205(1-2):42-54. doi: 10.1016/j.cancergen.2012.01.014. Cancer Genet. 2012. PMID: 22429597

9

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel JA, Mason PJ, Bessler M. Parikh S, et al. Among authors: biegel ja. Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31. Br J Haematol. 2012. PMID: 22934832 Free PMC article. No abstract available.

10

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients.

Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel JA, Mason PJ, Bessler M. Babushok DV, et al. Among authors: biegel ja. Am J Hematol. 2013 Oct;88(10):862-7. doi: 10.1002/ajh.23521. Epub 2013 Jul 23. Am J Hematol. 2013. PMID: 23798465 Free PMC article. Clinical Trial.

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