Scott AF - Search Results

1

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872

2

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jabs EW, et al. Among authors: scott af. Nat Genet. 1994 Nov;8(3):275-9. doi: 10.1038/ng1194-275. Nat Genet. 1994. PMID: 7874170

3

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. Meyers GA, et al. Among authors: scott af. Am J Hum Genet. 1996 Mar;58(3):491-8. Am J Hum Genet. 1996. PMID: 8644708 Free PMC article.

4

Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.

Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. Ingersoll RG, et al. Among authors: scott af. Cytogenet Cell Genet. 2001;94(3-4):121-6. doi: 10.1159/000048802. Cytogenet Cell Genet. 2001. PMID: 11856867

5

Genetic and environmental risk factors for sagittal craniosynostosis.

Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Zeiger JS, et al. Among authors: scott af. J Craniofac Surg. 2002 Sep;13(5):602-6. doi: 10.1097/00001665-200209000-00002. J Craniofac Surg. 2002. PMID: 12218784

6

Family-based analysis of MSX1 haplotypes for association with oral clefts.

Fallin MD, Hetmanski JB, Park J, Scott AF, Ingersoll R, Fuernkranz HA, McIntosh I, Beaty TH. Fallin MD, et al. Among authors: scott af. Genet Epidemiol. 2003 Sep;25(2):168-75. doi: 10.1002/gepi.10255. Genet Epidemiol. 2003. PMID: 12916025

7

Haplotype diversity in 11 candidate genes across four populations.

Beaty TH, Fallin MD, Hetmanski JB, McIntosh I, Chong SS, Ingersoll R, Sheng X, Chakraborty R, Scott AF. Beaty TH, et al. Among authors: scott af. Genetics. 2005 Sep;171(1):259-67. doi: 10.1534/genetics.105.043075. Epub 2005 Jun 18. Genetics. 2005. PMID: 15965248 Free PMC article.

8

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.

Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. Park JW, et al. Among authors: scott af. J Med Genet. 2006 Jul;43(7):598-608. doi: 10.1136/jmg.2005.040162. Epub 2006 Jan 13. J Med Genet. 2006. PMID: 16415175 Free PMC article.

9

Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population.

Chi PB, Duggal P, Kao WH, Mathias RA, Grant AV, Stockton ML, Garcia JG, Ingersoll RG, Scott AF, Beaty TH, Barnes KC, Fallin MD. Chi PB, et al. Among authors: scott af. Genet Epidemiol. 2006 Nov;30(7):609-19. doi: 10.1002/gepi.20172. Genet Epidemiol. 2006. PMID: 16830339

10

Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.

Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Beaty TH, et al. Among authors: scott af. Hum Genet. 2006 Nov;120(4):501-18. doi: 10.1007/s00439-006-0235-9. Epub 2006 Sep 5. Hum Genet. 2006. PMID: 16953426

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