Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral von Tavtigian, S V, Deffenbaugh, A M, Yin, L, Judkins, T, Scholl, T, Samollow, P B, de Silva, D, Zharkikh, A, Thomas, A

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Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation von Abkevich, V, Zharkikh, A, Deffenbaugh, A M, Frank, D, Chen, Y, Shattuck, D, Skolnick, M H, Gutin, A, Tavtigian, S V

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Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2 von Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N.A., Tavtigian, Sean V., Couch, Fergus J.

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Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia von Offit, Kenneth, Levran, Orna, Mullaney, Brian, Mah, Katherine, Nafa, Khedoudja, Batish, Sat Dev, Diotti, Raffaella, Schneider, Hildegard, Deffenbaugh, Amie, Scholl, Thomas, Proud, Virginia K., Robson, Mark, Norton, Larry, Ellis, Nathan, Hanenberg, Helmut, Auerbach, Arleen D.

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Frequency of germline and somatic BRCA1 mutations in ovarian cancer von 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

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Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations von 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

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A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes von 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.

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Instruments, Measurement Principles and Communication Technologies for Downhole Drilling Environments von Gooneratne, Chinthaka P, Li, Bodong, Deffenbaugh, Max, Moellendick, Timothy

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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 BR... von Judkins, T, Hendrickson, B C, Deffenbaugh, A M, Scholl, T

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Identification of germline 185delAG BRCA1 mutations in non‐Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado von 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.

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Functional evaluation and cancer risk assessment of BRCA2 unclassified variants von KANGJIAN WU, HINSON, Shannon R, OHASHI, Akihiro, FARRUGIA, Daniel, WENDT, Patricia, TAVTIGIAN, Sean V, DEFFENBAUGH, Amie, GOLDGAR, David, COUCH, Fergus J

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Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia von Wagner, John E., Tolar, Jakub, Levran, Orna, Scholl, Thomas, Deffenbaugh, Amie, Satagopan, Jaya, Ben-Porat, Leah, Mah, Katherine, Batish, Sat Dev, Kutler, David I., MacMillan, Margaret L., Hanenberg, Helmut, Auerbach, Arleen D.

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Hereditary susceptibility to breast cancer : Significance of age of onset in family history and contribution of BRCA1 and BRCA2 von FRANK, T. S, DEFFENBAUGH, A. M, HULICK, M, GUMPPER, K

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Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers von Hartmann, Lynn C., Sellers, Thomas A., Schaid, Daniel J., Frank, Thomas S., Soderberg, Cheryl L., Sitta, Diana L., Frost, Marlene H., Grant, Clive S., Donohue, John H., Woods, John E., McDonnell, Shannon K., Vockley, Catherine Walsh, Deffenbaugh, Amie, Couch, Fergus J., Jenkins, Robert B.

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Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals von Frank, T. S.

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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance von 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

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ATP hydrolysis-dependent disassembly of the 26S proteasome is part of the catalytic cycle von Babbitt, Shalon E, Kiss, Alexi, Deffenbaugh, Andrew E, Chang, Yie-Hwa, Bailly, Eric, Erdjument-Bromage, Hediye, Tempst, Paul, Buranda, Tione, Sklar, Larry A, Baumler, Jennifer, Gogol, Edward, Skowyra, Dorota

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Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations von JUDKINS, Thaddeus, HENDRICKSON, Brant C, DEFFENBAUGH, Amie M, ELIASON, Kristilyn, LECLAIR, Benoit, NORTON, Michael J, WARD, Brian E, PRUSS, Dmitri, SCHOLL, Thomas

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Molecular genetic testing for large genomic deletion and duplication mutations in the BRCA1 and BRCA2 genes for hereditary breast and ovarian cancer von Wenstrup, R., Judkins, T., Eliason, K., Schoenberger, J., Rajamani, S., Frye, C. A., Burbidge, L. A., Trost, J. T., Deffenbaugh, A. M., Roa, B. B.

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Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families von Hendrickson, Brant C., Judkins, Thaddeus, Ward, Benjamin D., Eliason, Kristilyn, Deffenbaugh, Amie E., Burbidge, Lynn Anne, Pyne, Kristin, Leclair, Benoît, Ward, Brian E., Scholl, Thomas

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