Bejjani BA - Search Results

1

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA. Lalani SR, et al. Among authors: bejjani ba. BMC Med Genet. 2006 Feb 10;7:8. doi: 10.1186/1471-2350-7-8. BMC Med Genet. 2006. PMID: 16472378 Free PMC article.

2

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG. Sahoo T, et al. Among authors: bejjani ba. Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06. Genet Med. 2011. PMID: 21792059 Free article.

3

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.

Rosenfeld JA, Stephens LE, Coppinger J, Ballif BC, Hoo JJ, French BN, Banks VC, Smith WE, Manchester D, Tsai AC, Merrion K, Mendoza-Londono R, Dupuis L, Schultz R, Torchia B, Sahoo T, Bejjani B, Weaver DD, Shaffer LG. Rosenfeld JA, et al. Eur J Hum Genet. 2011 May;19(5):547-54. doi: 10.1038/ejhg.2010.237. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248749 Free PMC article.

4

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T. Duker AL, et al. Among authors: bejjani ba. Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30. Eur J Hum Genet. 2010. PMID: 20588305 Free PMC article.

5

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

Sahoo T, Theisen A, Sanchez-Lara PA, Marble M, Schweitzer DN, Torchia BS, Lamb AN, Bejjani BA, Shaffer LG, Lacassie Y. Sahoo T, et al. Among authors: bejjani ba. Am J Med Genet A. 2011 Jul;155A(7):1646-53. doi: 10.1002/ajmg.a.34063. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671386 Free PMC article.

6

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.

Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R, Lamb A, Bejjani BA, Shaffer LG. Rosenfeld JA, et al. Among authors: bejjani ba. Genet Med. 2010 Nov;12(11):694-702. doi: 10.1097/GIM.0b013e3181f0c5f3. Genet Med. 2010. PMID: 20808228 Free article.

7

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. McCormack WM Jr, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Nov 1;112(4):384-9. doi: 10.1002/ajmg.10659. Am J Med Genet. 2002. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9.. PMID: 12376941 Corrected and republished.

8

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: bejjani ba. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

9

Pure trisomy 10p involving an isochromosome 10p.

Berend SA, Shaffer LG, Bejjani BA. Berend SA, et al. Among authors: bejjani ba. Clin Genet. 1999 May;55(5):367-71. doi: 10.1034/j.1399-0004.1999.550512.x. Clin Genet. 1999. PMID: 10422809

10

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Stankiewicz P, et al. Among authors: bejjani ba. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Am J Hum Genet. 2009. PMID: 19500772 Free PMC article.

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