Roney EK - Search Results

1

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Breman AM, et al. Among authors: roney ek. Am J Med Genet A. 2011 Jun;155A(6):1465-8. doi: 10.1002/ajmg.a.33935. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567909 Free PMC article. No abstract available.

2

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Bi W, et al. Among authors: roney ek. J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5. J Med Genet. 2012. PMID: 23042811

3

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Yatsenko SA, et al. Among authors: roney ek. Hum Mol Genet. 2009 Jun 1;18(11):1924-36. doi: 10.1093/hmg/ddp114. Epub 2009 Mar 17. Hum Mol Genet. 2009. PMID: 19293338 Free PMC article.

4

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Ricks CB, et al. Among authors: roney ek. Am J Med Genet A. 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227. Am J Med Genet A. 2010. PMID: 20101693

5

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.

Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Yatsenko SA, et al. Among authors: roney ek. Hum Genet. 2012 Dec;131(12):1895-910. doi: 10.1007/s00439-012-1216-9. Epub 2012 Aug 14. Hum Genet. 2012. PMID: 22890305 Free PMC article.

6

A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.

Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM. Burrage LC, et al. Among authors: roney ek. Am J Med Genet A. 2013 Apr;161A(4):841-4. doi: 10.1002/ajmg.a.35751. Epub 2013 Feb 26. Am J Med Genet A. 2013. PMID: 23444363 Free PMC article.

7

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. Soler-Alfonso C, et al. Among authors: roney ek. Eur J Hum Genet. 2014 Sep;22(9):1071-6. doi: 10.1038/ejhg.2013.302. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424125 Free PMC article.

8

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.

9

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.

Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY. Gennarino VA, et al. Among authors: roney ek. Elife. 2015 Aug 27;4:e10782. doi: 10.7554/eLife.10782. Elife. 2015. PMID: 26312503 Free PMC article.

10

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms.

Tang G, Lu X, Wang SA, Roney EK, Zhang L, Hu S, Lu G, Medeiros LJ, Patel A. Tang G, et al. Among authors: roney ek. Int J Clin Exp Pathol. 2014 May 15;7(6):3196-201. eCollection 2014. Int J Clin Exp Pathol. 2014. PMID: 25031740 Free PMC article.

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