Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families
Li, Jun, Meeks, Huong, Feng, Bing-Jian, Healey, Sue, Thorne, Heather, Makunin, Igor, Ellis, Jonathan, Campbell, Ian, Southey, Melissa, Mitchell, Gillian, Clouston, David, Kirk, Judy, Goldgar, David, Chenevix-Trench, Georgia
Published in Journal of medical genetics (01.01.2016)
Published in Journal of medical genetics (01.01.2016)
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Clinical Classification of BRCA1 and BRCA2 DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators
SPURDLE, Amanda B, LAKHANI, Sunil R, TAVTIGIAN, Sean V, GOLDGAR, David E, HEALEY, Sue, PARRY, Suzanne, DA SILVA, Leonard M, BRINKWORTH, Ross, HOPPER, John L, BROWN, Melissa A, BABIKYAN, Davit, CHENEVIX-TRENCH, Georgia
Published in Journal of clinical oncology (01.04.2008)
Published in Journal of clinical oncology (01.04.2008)
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Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Rare variants in the ATMgene and risk of breast cancer
Goldgar, David E, Healey, Sue, Dowty, James G, Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B, Terry, Mary Beth, Daly, Mary J, Buys, Saundra M, Southey, Melissa C, Andrulis, Irene, John, Esther M, , Khanna, Kum Kum, Hopper, John L, Oefner, Peter J, Lakhani, Sunil, Chenevix-Trench, Georgia
Published in Breast cancer research : BCR (25.07.2011)
Published in Breast cancer research : BCR (25.07.2011)
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Mapping of a candidate colorectal cancer tumor-suppressor gene to a 900-kilobase region on the short arm of chromosome 8
Flanagan, James M., Healey, Sue, Young, Joanne, Whitehall, Vicki, Trott, Deborah A., Newbold, Robert F., Chenevix-Trench, Georgia
Published in Genes chromosomes & cancer (01.07.2004)
Published in Genes chromosomes & cancer (01.07.2004)
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ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
Spurdle, Amanda B., Healey, Sue, Devereau, Andrew, Hogervorst, Frans B. L., Monteiro, Alvaro N. A., Nathanson, Katherine L., Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J., Goldgar, David E.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Rare variants in the ATM gene and risk of breast cancer
Goldgar, David E, Healey, Sue, Dowty, James G, Da Silva, Leonard, Chen, Xiaoqing, Spurdle, Amanda B, Terry, Mary Beth, Daly, Mary J, Buys, Saundra M, Southey, Melissa C, Andrulis, Irene, John, Esther M, Khanna, Kum Kum, Hopper, John L, Oefner, Peter J, Lakhani, Sunil, Chenevix-Trench, Georgia
Published in Breast cancer research : BCR (25.07.2011)
Published in Breast cancer research : BCR (25.07.2011)
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Journal Article
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
Tavtigian, Sean V., Oefner, Peter J., Babikyan, Davit, Hartmann, Anne, Healey, Sue, Le Calvez-Kelm, Florence, Lesueur, Fabienne, Byrnes, Graham B., Chuang, Shu-Chun, Forey, Nathalie, Feuchtinger, Corinna, Gioia, Lydie, Hall, Janet, Hashibe, Mia, Herte, Barbara, McKay-Chopin, Sandrine, Thomas, Alun, Vallée, Maxime P., Voegele, Catherine, Webb, Penelope M., Whiteman, David C., Sangrajrang, Suleeporn, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M., Chenevix-Trench, Georgia
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay
Waddell, Nic, Cocciardi, Sibylle, Johnson, Julie, Healey, Sue, Marsh, Anna, Riley, Joan, Silva, Leonard da, Vargas, Ana Cristina, Reid, Lynne, Simpson, Peter T, Lakhani, Sunil R, Chenevix-Trench, Georgia
Published in The Journal of pathology (01.08.2010)
Published in The Journal of pathology (01.08.2010)
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Atopy in Australia
Duffy, David L, Weger, John, Chenevix-Trench, Georgia, Healey, Sue C, Lichter, Jay, Martin, Nick G
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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HER3 and downstream pathways are involved in colonization of brain metastases from breast cancer
Da Silva, Leonard, Simpson, Peter T, Smart, Chanel E, Cocciardi, Sibylle, Waddell, Nic, Lane, Annette, Morrison, Brian J, Vargas, Ana Cristina, Healey, Sue, Beesley, Jonathan, Pakkiri, Pria, Parry, Suzanne, Kurniawan, Nyoman, Reid, Lynne, Keith, Patricia, Faria, Paulo, Pereira, Emilio, Skalova, Alena, Bilous, Michael, Balleine, Rosemary L, Do, Hongdo, Dobrovic, Alexander, Fox, Stephen, Franco, Marcello, Reynolds, Brent, Khanna, Kum Kum, Cummings, Margaret, Chenevix-Trench, Georgia, Lakhani, Sunil R
Published in Breast cancer research : BCR (01.01.2010)
Published in Breast cancer research : BCR (01.01.2010)
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Cognition and the temporal arts: Investigating audience response to dance using PDAs that record continuous data during live performance
Stevens, Catherine J., Schubert, Emery, Morris, Rua Haszard, Frear, Matt, Chen, Johnson, Healey, Sue, Schoknecht, Colin, Hansen, Stephen
Published in International journal of human-computer studies (01.09.2009)
Published in International journal of human-computer studies (01.09.2009)
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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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Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Investigators, kConFab, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J., Spurdle, Amanda B.
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Kuchenbaecker, Karoline B, Ramus, Susan J, Tyrer, Jonathan, Lee, Andrew, Shen, Howard C, Beesley, Jonathan, Lawrenson, Kate, McGuffog, Lesley, Healey, Sue, Lee, Janet M, Spindler, Tassja J, Lin, Yvonne G, Pejovic, Tanja, Bean, Yukie, Li, Qiyuan, Coetzee, Simon, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, Van Rensburg, Elizabeth J, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas V. O, Jønson, Lars, Gerdes, Anne-Marie, Ejlertsen, Bent, Barrowdale, Daniel, Dennis, Joe, Benitez, Javier, Osorio, Ana, Garcia, Maria Jose, Komenaka, Ian, Blanco Guillermo, Ignacio, Lázaro García, Conxi, Pujana Genestar, M. Ángel
Published in Nature genetics (01.02.2015)
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Published in Nature genetics (01.02.2015)
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A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins
Painter, Jodie N., Willemsen, Gonneke, Nyholt, Dale, Hoekstra, Chantal, Duffy, David L., Henders, Anjali K., Wallace, Leanne, Healey, Sue, Cannon-Albright, Lisa A., Skolnick, Mark, Martin, Nicholas G., Boomsma, Dorret I., Montgomery, Grant W.
Published in Human reproduction (Oxford) (01.06.2010)
Published in Human reproduction (Oxford) (01.06.2010)
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Maia, Ana-Teresa, Antoniou, Antonis C, O'Reilly, Martin, Samarajiwa, Shamith, Dunning, Mark, Kartsonaki, Christiana, Chin, Suet-Feung, Curtis, Christina N, McGuffog, Lesley, Domchek, Susan M, Easton, Douglas F, Peock, Susan, Frost, Debra, Evans, D Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian, Eccles, Diana, Sinilnikova, Olga M, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Faivre, Laurence, Venat-Bouvet, Laurence, Delnatte, Capucine, Nevanlinna, Heli, Couch, Fergus J, Godwin, Andrew K, Caligo, Maria Adelaide, Barkardottir, Rosa B, Chen, Xiaoqing, Beesley, Jonathan, Healey, Sue, Caldas, Carlos, Chenevix-Trench, Georgia, Ponder, Bruce A J
Published in Breast cancer research : BCR (18.04.2012)
Published in Breast cancer research : BCR (18.04.2012)
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth T S, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
Published in Breast cancer research : BCR (01.01.2007)
Published in Breast cancer research : BCR (01.01.2007)
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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers
Laitman, Yael, Kuchenbaecker, Karoline B., Rantala, Johanna, Hogervorst, Frans, Peock, Susan, Godwin, Andrew K., Arason, Adalgeir, Kirchhoff, Tomas, Offit, Kenneth, Isaacs, Claudine, Schmutzler, Rita K., Wappenschmidt, Barbara, Nevanlinna, Heli, Chen, Xiaoqing, Chenevix-Trench, Georgia, Healey, Sue, Couch, Fergus, Peterlongo, Paolo, Radice, Paolo, Nathanson, Katherine L., Caligo, Maria Adelaide, Neuhausen, Susan L., Ganz, Patricia, Sinilnikova, Olga M., McGuffog, Lesley, Easton, Douglas F., Antoniou, Antonis C., Wolf, Ido, Friedman, Eitan
Published in Breast cancer research and treatment (01.04.2012)
Published in Breast cancer research and treatment (01.04.2012)
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