Girirajan S - Search Results

1

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Girirajan S, et al. Genet Med. 2006 Jul;8(7):417-27. doi: 10.1097/01.gim.0000228215.32110.89. Genet Med. 2006. PMID: 16845274 Free article.

2

Challenges and considerations for reproducibility of STARR-seq assays.

Das M, Hossain A, Banerjee D, Praul CA, Girirajan S. Das M, et al. Among authors: girirajan s. Genome Res. 2023 Apr;33(4):479-495. doi: 10.1101/gr.277204.122. Epub 2023 May 2. Genome Res. 2023. PMID: 37130797 Free PMC article.

3

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

4

Brachydactyly A1: new relatives for old families?

Girirajan S, Elsea SH. Girirajan S, et al. J Genet. 2005 Aug;84(2):95-8. doi: 10.1007/BF02715835. J Genet. 2005. PMID: 16131709 Free article. No abstract available.

5

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. Bi W, et al. Among authors: girirajan s. Am J Med Genet A. 2006 Nov 15;140(22):2454-63. doi: 10.1002/ajmg.a.31510. Am J Med Genet A. 2006. PMID: 17041942

6

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Girirajan S, et al. Am J Med Genet A. 2007 May 1;143A(9):999-1008. doi: 10.1002/ajmg.a.31689. Am J Med Genet A. 2007. PMID: 17431895

7

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Edelman EA, et al. Among authors: girirajan s. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

8

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.

Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S. Girirajan S, et al. Clin Genet. 2007 Jul;72(1):47-58. doi: 10.1111/j.1399-0004.2007.00831.x. Clin Genet. 2007. PMID: 17594399

9

Smith-Magenis syndrome.

Elsea SH, Girirajan S. Elsea SH, et al. Among authors: girirajan s. Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231123 Review.

10

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH. Girirajan S, et al. Eur J Hum Genet. 2008 Aug;16(8):941-54. doi: 10.1038/ejhg.2008.21. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285828

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