Gedge F - Search Results

1

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P. McDonald J, et al. Among authors: gedge f. Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16. Clin Genet. 2011. PMID: 21158752

2

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.

Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, Bukjiok CJ, Lewis T, Bayrak-Toydemir P. Wooderchak W, et al. Among authors: gedge f. Clin Genet. 2010 Nov;78(5):484-9. doi: 10.1111/j.1399-0004.2010.01418.x. Clin Genet. 2010. PMID: 20412114

3

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. Bayrak-Toydemir P, et al. Among authors: gedge f. Am J Med Genet A. 2006 Mar 1;140(5):463-70. doi: 10.1002/ajmg.a.31101. Am J Med Genet A. 2006. PMID: 16470787

4

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Gedge F, et al. J Mol Diagn. 2007 Apr;9(2):258-65. doi: 10.2353/jmoldx.2007.060117. J Mol Diagn. 2007. PMID: 17384219 Free PMC article.

5

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

McDonald J, Gedge F, Burdette A, Carlisle J, Bukjiok CJ, Fox M, Bayrak-Toydemir P. McDonald J, et al. Among authors: gedge f. J Mol Diagn. 2009 Nov;11(6):569-75. doi: 10.2353/jmoldx.2009.080148. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767588 Free PMC article.

6

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Wooderchak-Donahue W, Stevenson DA, McDonald J, Grimmer JF, Gedge F, Bayrak-Toydemir P. Wooderchak-Donahue W, et al. Among authors: gedge f. Eur J Med Genet. 2012 Feb;55(2):91-5. doi: 10.1016/j.ejmg.2011.11.008. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22200646

7

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. Bayrak-Toydemir P, et al. Among authors: gedge f. Exp Mol Pathol. 2008 Aug;85(1):45-9. doi: 10.1016/j.yexmp.2008.03.006. Epub 2008 Apr 8. Exp Mol Pathol. 2008. PMID: 18495117

8

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

Wooderchak-Donahue W, Vaughn C, Chou LS, Lewis T, Sumner K, Procter M, Gedge F, Bayrak-Toydemir P, Lyon E, Pont-Kingdon G. Wooderchak-Donahue W, et al. Among authors: gedge f. Genet Test Mol Biomarkers. 2011 Nov;15(11):793-9. doi: 10.1089/gtmb.2011.0051. Epub 2011 Jun 20. Genet Test Mol Biomarkers. 2011. PMID: 21689003

9

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists. Pont-Kingdon G, et al. Among authors: gedge f. Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA. Arch Pathol Lab Med. 2012. PMID: 22208486 Free article.

10

Molecular testing for adult type Alport syndrome.

Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E. Pont-Kingdon G, et al. Among authors: gedge f. BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38. BMC Nephrol. 2009. PMID: 19919694 Free PMC article.

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