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Mutation Research|April 15, 2005
Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1Thaddeus Judkins, Brant C Hendrickson, Amie M Deffenbaugh, et al.
Genetic Testing|September 7, 2002
Characterization of common BRCA1 and BRCA2 variantsAmie M Deffenbaugh, Thomas S Frank, Michael Hoffman, et al.
The Journal of Molecular Diagnostics : JMD|February 1, 2005
A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer setsBenjamin D Ward, Brant C Hendrickson, Thaddeus Judkins, et al.
American Journal of Human Genetics|August 4, 2004
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2David E Goldgar, Douglas F Easton, Amie M Deffenbaugh, et al.
Cancer Research|November 4, 2005
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutationsThaddeus Judkins, Brant C Hendrickson, Amie M Deffenbaugh, et al.
Cancer|July 25, 2003
Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, ColoradoLisa G Mullineaux, Teresa M Castellano, Jeffrey Shaw, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 15, 2002
BRCA1/2 genetic testing in the community settingWendy Y Chen, Judy E Garber, Suzanne Higham, et al.
Cancer|February 26, 2009
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancerMichael J Hall, Julia E Reid, Lynn A Burbidge, et al.
JAMA|September 28, 2006
Prediction of MLH1 and MSH2 mutations in Lynch syndromeJudith Balmaña, David H Stockwell, Ewout W Steyerberg, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 16, 2002
Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individualsThomas S Frank, Amie M Deffenbaugh, Julia E Reid, et al.
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