A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
Easton, Douglas F., Deffenbaugh, Amie M., Pruss, Dmitry, Frye, Cynthia, Wenstrup, Richard J., Allen-Brady, Kristina, Tavtigian, Sean V., Monteiro, Alvaro N.A., Iversen, Edwin S., Couch, Fergus J., Goldgar, David E.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Journal Article
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
Tavtigian, S V, Deffenbaugh, A M, Yin, L, Judkins, T, Scholl, T, Samollow, P B, de Silva, D, Zharkikh, A, Thomas, A
Published in Journal of medical genetics (01.04.2006)
Published in Journal of medical genetics (01.04.2006)
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Journal Article
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer
Hall, Michael J., Reid, Julia E., Burbidge, Lynn A., Pruss, Dmitry, Deffenbaugh, Amie M., Frye, Cynthia, Wenstrup, Richard J., Ward, Brian E., Scholl, Thomas A., Noll, Walter W.
Published in Cancer (15.05.2009)
Published in Cancer (15.05.2009)
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Journal Article
Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N.A., Tavtigian, Sean V., Couch, Fergus J.
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Journal Article
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
Abkevich, V, Zharkikh, A, Deffenbaugh, A M, Frank, D, Chen, Y, Shattuck, D, Skolnick, M H, Gutin, A, Tavtigian, S V
Published in Journal of medical genetics (01.07.2004)
Published in Journal of medical genetics (01.07.2004)
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Journal Article
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance
CHENEVIX-TRENCH, Georgia, HEALEY, Sue, SCHOLL, Tom, BEKESSY, Anna, MARSH, Anna, LOVELOCK, Paul, WONG, Ming, TESORIERO, Andrea, RENARD, Helene, SOUTHEY, Melissa, HOPPER, John L, YANNOUKAKOS, Koulis, LAKBANI, Sunil, BROWN, Melissa, EASTON, Douglas, TAVTIGIAN, Sean V, GOLDGAR, David, SPURDLE, Amanda B, WARING, Paul, CUMMINGS, Margaret, BRINKWORTH, Ross, DEFFENBAUGH, Amie M, BURBIDGE, Lynn Anne, PRUSS, Dmitry, JUDKINS, Thad
Published in Cancer research (Chicago, Ill.) (15.02.2006)
Published in Cancer research (Chicago, Ill.) (15.02.2006)
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Journal Article
Frequency of germline and somatic BRCA1 mutations in ovarian cancer
BERCHUCK, A, HERON, K.-A, FRANK, T. S, CARNEY, M. E, LANCASTER, J. M, FRASER, E. G, VINSON, V. L, DEFFENBAUGH, A. M, MIRON, A, MARKS, J. R, FUTREAL, P. A
Published in Clinical cancer research (01.10.1998)
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Published in Clinical cancer research (01.10.1998)
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Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1
Judkins, Thaddeus, Hendrickson, Brant C, Deffenbaugh, Amie M, Scholl, Thomas
Published in Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis (03.06.2005)
Published in Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis (03.06.2005)
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Journal Article
Identification of germline 185delAG BRCA1 mutations in non‐Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado
Mullineaux, Lisa G., Castellano, Teresa M., Shaw, Jeffrey, Axell, Lisen, Wood, Marie E., Diab, Sami, Klein, Catherine, Sitarik, Mark, Deffenbaugh, Amie M., Graw, Sharon L.
Published in Cancer (01.08.2003)
Published in Cancer (01.08.2003)
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Journal Article
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations
JUDKINS, Thaddeus, HENDRICKSON, Brant C, DEFFENBAUGH, Amie M, ELIASON, Kristilyn, LECLAIR, Benoit, NORTON, Michael J, WARD, Brian E, PRUSS, Dmitri, SCHOLL, Thomas
Published in Cancer research (Chicago, Ill.) (01.11.2005)
Published in Cancer research (Chicago, Ill.) (01.11.2005)
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Texas Two-Step: A Framework for Optimal Multi-Input Single-Output Deconvolution
Neelamani, R.N., Deffenbaugh, M., Baraniuk, R.G.
Published in IEEE transactions on image processing (01.11.2007)
Published in IEEE transactions on image processing (01.11.2007)
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Journal Article
BRCA1/2 Genetic Testing in the Community Setting
CHEN, Wendy Y, GARBER, Judy E, HIGHAM, Suzanne, SCHNEIDER, Katherine A, DAVIS, Katie B, DEFFENBAUGH, Amie M, FRANK, Thomas S, GELMAN, Rebecca S, LI, Frederick P
Published in Journal of clinical oncology (15.11.2002)
Published in Journal of clinical oncology (15.11.2002)
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Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome
Balmaña, Judith, Stockwell, David H, Steyerberg, Ewout W, Stoffel, Elena M, Deffenbaugh, Amie M, Reid, Julia E, Ward, Brian, Scholl, Thomas, Hendrickson, Brant, Tazelaar, John, Burbidge, Lynn Anne, Syngal, Sapna
Published in JAMA : the journal of the American Medical Association (27.09.2006)
Published in JAMA : the journal of the American Medical Association (27.09.2006)
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Journal Article
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations
Leegte, B, van der Hout, A H, Deffenbaugh, A M, Bakker, M K, Mulder, I M, ten Berge, A, Leenders, E P, Wesseling, J, de Hullu, J, Hoogerbrugge, N, Ligtenberg, M J L, Ardern-Jones, A, Bancroft, E, Salmon, A, Barwell, J, Eeles, R, Oosterwijk, J C
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Journal Article
Functional assays for classification of BRCA2 variants of uncertain significance
Farrugia, Daniel J, Agarwal, Mukesh K, Pankratz, Vernon S, Deffenbaugh, Amie M, Pruss, Dmitry, Frye, Cynthia, Wadum, Linda, Johnson, Kiley, Mentlick, Jennifer, Tavtigian, Sean V, Goldgar, David E, Couch, Fergus J
Published in Cancer research (Chicago, Ill.) (01.05.2008)
Published in Cancer research (Chicago, Ill.) (01.05.2008)
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Downhole viscosity measurement platform using tuning fork oscillators
Gonzalez, M., Ham, G., Al Haddad, A., Bernero, G., Deffenbaugh, M.
Published in 2015 IEEE SENSORS (01.11.2015)
Published in 2015 IEEE SENSORS (01.11.2015)
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Conference Proceeding
Anechoic aquarium for ultrasonic neural telemetry
Mensinger, Allen F., De enbaugh, Max
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.09.2000)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (29.09.2000)
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