Bejjani BA - Search Results

1

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Campbell IM, et al. Among authors: bejjani ba. Genet Med. 2012 Oct;14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21. Genet Med. 2012. PMID: 22722545 Free PMC article.

2

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

Wu YQ, Bejjani BA, Tsui LC, Mandel A, Osborne LR, Shaffer LG. Wu YQ, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Apr 22;109(2):121-4. doi: 10.1002/ajmg.10321. Am J Med Genet. 2002. PMID: 11977160 Free PMC article.

3

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

Berend SA, Bejjani BA, McCaskill C, Shaffer LG. Berend SA, et al. Among authors: bejjani ba. Am J Med Genet. 2002 Sep 1;111(4):362-5. doi: 10.1002/ajmg.10566. Am J Med Genet. 2002. PMID: 12210293

4

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

5

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.

6

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

7

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

Zhao Q, Chen KS, Bejjani BA, Lupski JR. Zhao Q, et al. Among authors: bejjani ba. Genomics. 1998 May 1;49(3):394-400. doi: 10.1006/geno.1998.5285. Genomics. 1998. PMID: 9615224

8

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T. Shaffer LG, et al. Among authors: bejjani ba. Genet Med. 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. Genet Med. 2007. PMID: 17873649 Free article. Review.

9

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: bejjani ba. Hum Genet. 2010 Apr;127(4):421-40. doi: 10.1007/s00439-009-0778-7. Hum Genet. 2010. PMID: 20066439

10

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.

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