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Spurdle, A.B., Lakhani, S.R., Healey, S., Parry, S., Da Silva, L. M., Brinkworth, R.I., Hopper, J.L., Brown, M.A., Babikyan, D., Chenevix-Trench, G., Tavtigian, S.V. and Goldgar, D.E. (2008) Clinical classification of BRCA1 and BRCA2 DNA sequence variants: The value of cytokeratin profiles and evolutionary analysis - A report from the kConFab Investigators. Journal of Clinical Oncology, 26 10: 1657-1663. doi:10.1200/JCO.2007.13.2779 66   45 Cited 44 times in Scopus44 0
Stevens, K.N., Wang, X., Fredericksen, Z., Pankratz, V.S., Greene, M.H., Andrulis, I.L., Thomassen, M., Caligo, M., Nathanson, K.L., Jakubowska, A., Osorio, A., Hamann, U., Godwin, A.K., Stoppa-Lyonnet, D., Southey, M., Buys, S.S., Singer, C.F., Hansen, T.V.O., Arason, A., Offit, K., Piedmonte, M., Montagna, M., Imyanitov, E., Tihomirova, L., Sucheston, L., Beattie, M., Neuhausen, S.L., Szabo, C.I., Simard, J., Spurdle, A.B., Healey, S., Chen, X., Rebbeck, T.R., Easton, D.F., Chenevix-Trench, G., Antoniou, A.C. and Couch, F.J. (2012) Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Research and Treatment, 136 1: 295-302. doi:10.1007/s10549-012-2255-6 41   1 Cited 1 times in Scopus1 0
Osorio, A., Milne, R. L., Alonso, R., Pita, G., Peterlongo, P., Teule, A., Nathanson, K. L., Domchek, S. M., Rebbeck, T., Lasa, A., Konstantopoulou, I., Hogervorst, F. B., Verhoef, S., van Dooren, M. F., Jager, A., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Vreeswijk, M., Waisfisz, Q., Van Roozendaal, C. E., Ligtenberg, M. J., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Curzon, B., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Adlard, J., Eccles, D., Ong, K-R, Douglas, F., Downing, S., Brewer, C., Walker, L., Nevanlinna, H., Aittomaki, K., Couch, F. J., Fredericksen, Z., Lindor, N. M., Godwin, A., Isaacs, C., Caligo, M. A., Loman, N., Jernstrom, H., Barbany-Bustinza, G., Liljegren, A., Ehrencrona, H., Stenmark-Askmalm, M., Feliubadalo, L., Manoukian, S., Peissel, B., Zaffaroni, D., Bonanni, B., Fortuzzi, S., Johannsson, O. T., Chenevix-Trench, G., Chen, X-C, Beesley, J., Spurdle, A. B., Sinilnikova, O. M., Healey, S., McGuffog, L., Antoniou, A. C., Brunet, J., Radice, P. and Benitez, J. (2011) Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. British Journal of Cancer, 104 8: 1356-1361. doi:10.1038/bjc.2011.91 88   3 Cited 3 times in Scopus3 0
Worthley, D.L., Phillips, K.D., Wayte, N., Schrader, K.A., Healey, S., Kaurah, P., Shulkes, A., Grimpen, F., Clouston, A., Moore, D., Cullen, D., Ormonde, D., Mounkley, D., Wen, X., Lindor, N., Carneiro, F., Huntsman, D.G., Chenevix-Trench, G. and Suthers, G.K. (2011) Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndrome. Gut, 61 5: 1-6. doi:10.1136/gutjnl-2011-300348 109   13 Cited 13 times in Scopus13 0
Chenevix-Trench, G., Healey, S. C., Lakhani, S., Brinkworth, R. I., KConFab, K. C. F., Marsh, A., Brown, M. A., Easton, D. F., Tavtigian, S., Goldgar, D. E. and Spurdle, A. B. (2005). Genetic and immunohistopathological evaluation of BRCA1 and BRCA2 unclassified variants. In: Proceedings of the Familial Cancer 2005: Research and Practice. Familial Cancer 2005: Research and Practice, Couran Cove, Queensland, (). 30 August - 3 September, 2005. 69  
Lovelock P. K., Healey, S., Au, W., Sum, E, Y. M., Tesoriero, A., Wong, E. M., Hinson, S., Brinkworth, R., Bekessy, A., Diez, O., Izatt, L., Solomon, E., Jenkins, M., Renard, H., Hopper, J., Waring, P., kConFab Investigators, Tavtigian, S. V., Goldgar, D., Lindeman, G J ., Visvader, J. E., Couch, F. J., Henderson, B. R., Southey, M., Chenevix-Trench, G., Spurdle, A. B. and Brown, M. A. (2006) Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. Journal of Medical Genetics, 43 1: 74-83. doi:10.1136/jmg.2005.033258 51   23 Cited 22 times in Scopus22 0
Couch F.J., Wang X., McGuffog L., Lee A., Olswold C., Kuchenbaecker K.B., Soucy P., Fredericksen Z., Barrowdale D., Dennis J., Gaudet M.M., Dicks E., Kosel M., Healey S., Sinilnikova O.M., Lee A., Bacot F., Vincent D., Hogervorst F.B.L., Peock S., Stoppa-Lyonnet D., Jakubowska A., Radice P., Schmutzler R.K., Domchek S.M., Piedmonte M., Singer C.F., Friedman E., Thomassen M., Hansen T.V.O., Neuhausen S.L., Szabo C.I., Blanco I., Greene M.H., Karlan B.Y., Garber J., Phelan C.M., Weitzel J.N., Montagna M., Olah E., Andrulis I.L., Godwin A.K., Yannoukakos D., Goldgar D.E., Caldes T., Nevanlinna H., Osorio A., Terry M.B., Daly M.B., van Rensburg E.J., Hamann U., Ramus S.J., Ewart Toland A., Caligo M.A., Olopade O.I., Tung N., Claes K., Beattie M.S., Southey M.C., Imyanitov E.N., Tischkowitz M., Janavicius R., John E.M., Kwong A., Diez O., Balmana J., Barkardottir R.B., Arun B.K., Rennert G., Teo S.-H., Ganz P.A., Campbell I., van der Hout A.H., van Deurzen C.H.M., Seynaeve C., Gomez Garcia E.B., van Leeuwen F.E., Meijers-Heijboer H.E.J., Gille J.J.P., Ausems M.G.E.M., Blok M.J., Ligtenberg M.J.L., Rookus M.A., Devilee P., Verhoef S., van Os T.A.M., Wijnen J.T., Frost D., Ellis S., Fineberg E., Platte R., Evans D.G., Izatt L., Eeles R.A., Adlard J., Eccles D.M., Cook J., Brewer C., Douglas F., Hodgson S., Morrison P.J., Side L.E., Donaldson A., Houghton C., Rogers M.T., Dorkins H., Eason J., Gregory H., McCann E., Murray A., Calender A., Hardouin A., Berthet P., Delnatte C., Nogues C., Lasset C., Houdayer C., Leroux D., Rouleau E., Prieur F., Damiola F., Sobol H., Coupier I., Venat-Bouvet L., Castera L., Gauthier-Villars M., Leone M., Pujol P., Mazoyer S., Bignon Y.-J., Zlowocka-Perlowska E., Gronwald J., Lubinski J., Durda K., Jaworska K., Huzarski T., Spurdle A.B., Viel A., Peissel B., Bonanni B., Melloni G., Ottini L., Papi L., Varesco L., Tibiletti M.G., Peterlongo P., Volorio S., Manoukian S., Pensotti V., Arnold N., Engel C., Deissler H., Gadzicki D., Gehrig A., Kast K., Rhiem K., Meindl A., Niederacher D., Ditsch N., Plendl H., Preisler-Adams S., Engert S., Sutter C., Varon-Mateeva R., Wappenschmidt B., Weber B.H.F., Arver B., Stenmark-Askmalm M., Loman N., Rosenquist R., Einbeigi Z., Nathanson K.L., Rebbeck T.R., Blank S.V., Cohn D.E., Rodriguez G.C., Small L., Friedlander M., Bae-Jump V.L., Fink-Retter A., Rappaport C., Gschwantler-Kaulich D., Pfeiler G., Tea M.-K., Lindor N.M., Kaufman B., Shimon Paluch S., Laitman Y., Skytte A.-B., Gerdes A.-M., Pedersen I.S., Moeller S.T., Kruse T.A., Jensen U.B., Vijai J., Sarrel K., Robson M., Kauff N., Mulligan A.M., Glendon G., Ozcelik H., Ejlertsen B., Nielsen F.C., Jonson L., Andersen M.K., Ding Y.C., Steele L., Foretova L., Teule A., Lazaro C., Brunet J., Pujana M.A., Mai P.L., Loud J.T., Walsh C., Lester J., Orsulic S., Narod S.A., Herzog J., Sand S.R., Tognazzo S., Agata S., Vaszko T., Weaver J., Stavropoulou A.V., Buys S.S., Romero A., de la Hoya M., Aittomaki K., Muranen T.A., Duran M., Chung W.K., Lasa A., Dorfling C.M., Miron A., Benitez J., Senter L., Huo D., Chan S.B., Sokolenko A.P., Chiquette J., Tihomirova L., Friebel T.M., Agnarsson B.A., Lu K.H., Lejbkowicz F., James P.A., Hall P., Dunning A.M., Tessier D., Cunningham J., Slager S.L., Wang C., Hart S., Stevens K., Simard J., Pastinen T., Pankratz V.S., Offit K., Easton D.F., Chenevix-Trench G., Antoniou A.C., Thorne H., Niedermayr E., Borg A., Olsson H., Jernstrom H., Henriksson K., Harbst K., Soller M., Loman N., Kristoffersson U., Ofverholm A., Nordling M., Karlsson P., Einbeigi Z., von Wachenfeldt A., Liljegren A., Lindblom A., Arver B., Bustinza G.B., Rantala J., Melin B., Ardnor C.E., Emanuelsson M., Ehrencrona H., Pigg M.H., Rosenquist R., Stenmark-Askmalm M., Liedgren S., Rookus M.A., Hogervorst F.B.L., Verhoef S., van Leeuwen F.E., Schmidt M.K., de Lange J., Collee J.M., van den Ouweland A.M.W., Hooning M.J., Seynaeve C., van Asperen C.J., Wijnen J.T., Tollenaar R.A., Devilee P., van Cronenburg T.C.T.E.F., Kets C.M., Mensenkamp A.R., Ausems M.G.E.M., van der Luijt R.B., Aalfs C.M., van Os T.A.M., Gille J.J.P., Waisfisz Q., Meijers-Heijboer H.E.J., Gomez-Garcia E.B., Blok M.J., Oosterwijk J.C., van der Hout H., Mourits M.J., de Bock G.H., Peock S., Frost D., Ellis S., Fineberg E., Platte R., Miedzybrodzka Z., Gregory H., Morrison P., Jeffers L., Cole T., Ong K.-R., Hoffman J., Donaldson A., James M., Tischkowitz M., Paterson J., Taylor A., Murray A., Rogers M.T., McCann E., Kennedy M.J., Barton D., Porteous M., Drummond S., Brewer C., Kivuva E., Searle A., Goodman S., Hill K., Davidson R., Murday V., Bradshaw N., Snadden L., Longmuir M., Watt C., Gibson S., Haque E., Tobias E., Duncan A., Izatt L., Jacobs C., Langman C., Dorkins H., Brady A., Melville A., Randhawa K., Barwell J., Adlard J., Serra-Feliu G., Ellis I., Houghton C., Evans D.G., Lalloo F., Taylor J., Side L., Male A., Berlin C., Eason J., Collier R., Douglas F., Claber O., Jobson I., Walker L., McLeod D., Halliday D., Durell S., Stayner B., Eeles R.A., Shanley S., Rahman N., Houlston R., Stormorken A., Bancroft E., Page E., Ardern-Jones A., Kohut K., Wiggins J., Castro E., Killick E., Martin S., Rea G., Kulkarni A., Cook J., Quarrell O., Bardsley C., Hodgson S., Goff S., Brice G., Winchester L., Eddy C., Tripathi V., Attard V., Lehmann A., Eccles D., Lucassen A., Crawford G., McBride D., Smalley S., Sinilnikova O., Mazoyer S., Damiola F., Barjhoux L., Verny-Pierre C., Giraud S., Leone M., Stoppa-Lyonnet D., Gauthier-Villars M., Buecher B., Houdayer C., Moncoutier V., Belotti M., Tirapo C., de Pauw A., Bressac-de-Paillerets B., Caron O., Bignon Y.-J., Uhrhammer N., Lasset C., Bonadona V., Handallou S., Hardouin A., Berthet P., Sobol H., Bourdon V., Noguchi T., Remenieras A., Eisinger F., Coupier I., Pujol P., Peyrat J.-P., Fournier J., Revillion F., Vennin P., Adenis C., Rouleau E., Lidereau R., Demange L., Nogues C., Muller D., Fricker J.-P., Barouk-Simonet E., Bonnet F., Bubien V., Sevenet N., Longy M., Toulas C., Guimbaud R., Gladieff L., Feillel V., Leroux D., Dreyfus H., Rebischung C., Peysselon M., Coron F., Faivre L., Prieur F., Lebrun M., Kientz C., Ferrer S.F., Frenay M., Venat-Bouvet L., Delnatte C., Mortemousque I., Coulet F., Colas C., Soubrier F., Sokolowska J., Bronner M., Lynch H.T., Snyder C.L., Angelakos M., Maskiell J. and Dite G. (2013) Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk. PLoS Genetics, 9 3: e1003212-1-e1003212-21. doi:10.1371/journal.pgen.1003212 27   30 Cited 34 times in Scopus34 117
Healey, S. C., Kirk, K. M., Hyland, V. J., Munns, C., Henders, A. K., Batch, J. A., Heath, A. C., Martin, N. G. and Glass, I. A. (2001) Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes. Twin Research, 4 1: 19-24. doi:10.1375/twin.4.1.19 56   0
Thomas, N. S., Browne, C. E., Oley, C., Healey, S. and Crolla, J. A. (1999) Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region. Human Genetics, 105 5: 384-387. doi:10.1007/s004390051120 27   18 Cited 20 times in Scopus20 0
MacMillan, J., Voisey, J., Healey, S. C. and Martin, N. G. (1999) Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci. Journal of Medical Genetics, 36 3: 258-259. doi:10.1136/jmg.36.3.258 35   5 0
Healey, S. C., Hyland, V., Rowell, J., Clague, A., Oley, C. and Macmillan, J. (1999). Oculopharyngeal muscular dystrophy. In: 23rd Annual Scientific Meeting of the Human Genetics Society of Australasia and 13th Annual Scientific Meeting of the Australasian Society for Inborn Errors of Metabolism. Genetics into the New Millennium, EventSite, Aust. Technology Park, Sydney, (). 30 Aug - 2 Sep, 1999. 45  
Irwin, D.L., Bryan, J.L., Chan, F.Y., Matthews, P.L., Healey, S.C., Peters, M. and Findlay, I. (2003) Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques. Genetic Testing, 7 1: 1-6. doi:10.1089/109065703321560868 60   6 Cited 5 times in Scopus5 0