Burnside RD - Search Results

1

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Riley KN, et al. Among authors: burnside rd. Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269. Epub 2015 Jul 31. Am J Med Genet A. 2015. PMID: 26227573

2

Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood.

Pal CV, Eble TN, Burnside RD, Bi W, Patel A, Franco LM. Pal CV, et al. Among authors: burnside rd. Eur J Med Genet. 2014 May-Jun;57(6):264-6. doi: 10.1016/j.ejmg.2014.03.001. Epub 2014 Mar 15. Eur J Med Genet. 2014. PMID: 24636861 Free PMC article.

3

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Burnside RD, Molinari S, Botti C, Brooks SS, Chung WK, Mehta L, Schwartz S, Papenhausen P. Burnside RD, et al. Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088856

4

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.

Burnside RD. Burnside RD. Cytogenet Genome Res. 2015;146(2):89-99. doi: 10.1159/000438708. Epub 2015 Aug 8. Cytogenet Genome Res. 2015. PMID: 26278718 Review.

5

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Burnside RD, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P. Burnside RD, et al. Am J Med Genet A. 2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495222

6

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.

Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ. Mikhail FM, et al. Among authors: burnside rd. Genet Med. 2014 Jan;16(1):92-100. doi: 10.1038/gim.2013.79. Epub 2013 Jun 13. Genet Med. 2014. PMID: 23765049 Free article.

7

Partial monosomy of 11q22.2q22.3 including the SDHD gene in individuals with developmental delay.

Yelavarthi K, Cabral H, Wilson GN, Rohena L, Risheg H, Penton A, Schleede J, Burnside RD. Yelavarthi K, et al. Among authors: burnside rd. Am J Med Genet A. 2015 Apr;167A(4):695-700. doi: 10.1002/ajmg.a.36956. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735893

8

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM. Burnside RD, et al. Am J Med Genet A. 2009 Jul;149A(7):1516-22. doi: 10.1002/ajmg.a.32906. Am J Med Genet A. 2009. PMID: 19533774

9

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Burnside RD, et al. Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27. Hum Genet. 2011. PMID: 21359847 Free PMC article.

10

Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.

Burnside RD, Harris A, Speyer D, Burgin WS, Rose DZ, Sanchez-Valle A. Burnside RD, et al. Cytogenet Genome Res. 2016;150(1):46-51. doi: 10.1159/000452144. Epub 2016 Nov 9. Cytogenet Genome Res. 2016. PMID: 27825145

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