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Items: 7


Recurrent and founder mutations in the PMS2 gene.

Tomsic J, Senter L, Liyanarachchi S, Clendenning M, Vaughn CP, Jenkins MA, Hopper JL, Young J, Samowitz W, de la Chapelle A.

Clin Genet. 2013 Mar;83(3):238-43. doi: 10.1111/j.1399-0004.2012.01898.x.


Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer.

Warren JD, Xiong W, Bunker AM, Vaughn CP, Furtado LV, Roberts WL, Fang JC, Samowitz WS, Heichman KA.

BMC Med. 2011 Dec 14;9:133. doi: 10.1186/1741-7015-9-133.


NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.

Am J Med Genet A. 2010 Aug;152A(8):1973-8. doi: 10.1002/ajmg.a.33525.


Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.

Vaughn CP, Lyon E, Samowitz WS.

J Mol Diagn. 2008 Jul;10(4):355-60. doi: 10.2353/jmoldx.2008.080021.


High-resolution melting analysis for detection of internal tandem duplications.

Vaughn CP, Elenitoba-Johnson KS.

J Mol Diagn. 2004 Aug;6(3):211-6.

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