Contact Information
Please contact the following individuals for additional information.
MEN2 mutations
Rong Mao, MDCo-Medical Director - Molecular Genetics
(801) 583-2787, ext. 3165
e-mail: rong.mao@aruplab.com
MEN2 submissions
Rebecca Margraf, PhDR&D Scientist II - Advanced Technology Group
(801) 583-2787, ext. 2218
e-mail: rebecca.margraf@aruplab.com
arup.utah.edu website
David CrockettBioinformatics Analyst
(801) 583-2787, ext. 2388
e-mail: david.crockett@utah.edu
MEN2/RET literature references for the database curators:
- Margraf RL, Crockett DK, Krautscheid P, Seamons R, Calderon FR, Wittwer CT, Mao R.The Multiple Endocrine Neoplasia type 2 RET proto-oncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat. 2009 Apr;30(4):548-56.
- Margraf RL, Mao R, Wittwer CT. Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument. J Mol Diagn. 2008 Mar;10(2):123-8.
- Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT. RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis. J Mol Diagn. 2007 Apr;9(2):184-96.
- Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT. Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clin Chem. 2006 Jan;52(1):138-41.
- Ahmed SA, Snow-Bailey K, Highsmith WE, Sun W, Fenwick RG, Mao R. Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn. 2005 May;7(2):283-8.
- Margraf RL, Mao R, Wittwer CT. Masking selected sequence variation by incorporating mismatches into melting analysis probes. Hum Mutat. 2006 Mar;27(3):269-78.
- Dames S, Margraf RL, Pattison DC, Wittwer CT, Voelkerding KV. Characterization of aberrant melting peaks in unlabeled probe assays. J Mol Diagn. 2007 Jul;9(3):290-6.