PALB2: research reaching to clinical outcomes for women with breast cancer

by Southey, Melissa C., Winship, Ingrid, Nguyen-Dumont, Tú
Published 2016

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets

by Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J
Published 2014

Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database

by Park, Daniel J, Nguyen-Dumont, Tú, Kang, Sori, Verspoor, Karin, Pope, Bernard J
Published 2014

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

by Park, Daniel J., Li, Roger, Lau, Edmund, Georgeson, Peter, Nguyen-Dumont, Tú, Pope, Bernard J.
Published 2016

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing

by Blanc, R, Jammot, A, Nguyen-Dumont, T, Teo, ZL, Odefrey, FA, Hammet, F, Goldgar, DE, Park, DJ, Southey, MC
Published 2012

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2

by Nguyen-Dumont, Tú, Jordheim, Lars P, Michelon, Jocelyne, Forey, Nathalie, McKay-Chopin, Sandrine, Sinilnikova, Olga, Le Calvez-Kelm, Florence, Southey, Melissa C, Tavtigian, Sean V, Lesueur, Fabienne
Published 2011

Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

by Teo, ZL, Park, DJ, Odefrey, F, Hammet, F, Nguyen-Dumont, T, Tsimiklis, H, Pope, BJ, Lonie, A, Winship, I, Giles, GG, Hopper, JL, Southey, MC
Published 2012

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

by Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Published 2013

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

by Teo, Zhi L, Park, Daniel J, Provenzano, Elena, Chatfield, Catherine A, Odefrey, Fabrice A, Nguyen-Dumont, Tu, Dowty, James G, Hopper, John L, Winship, Ingrid, Goldgar, David E, Southey, Melissa C
Published 2013

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

by Nguyen-Dumont, Tú, Teo, Zhi L, Pope, Bernard J, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Sabbaghian, Nelly, Tischkowitz, Marc, Foulkes, William D, Giles, Graham G, Hopper, John L, Southey, Melissa C, Park, Daniel J
Published 2013

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screeni...

by Le Calvez-Kelm, Florence, Lesueur, Fabienne, Damiola, Francesca, Vallée, Maxime, Voegele, Catherine, Babikyan, Davit, Durand, Geoffroy, Forey, Nathalie, McKay-Chopin, Sandrine, Robinot, Nivonirina, Nguyen-Dumont, Tù, Thomas, Alun, Byrnes, Graham B, Hopper, John L, Southey, Melissa C, Andrulis, Irene L, John, Esther M, Tavtigian, Sean V
Published 2011

Identification of new breast cancer predisposition genes via whole exome sequencing

by Southey, MC, Park, DJ, Lesueur, F, Odefrey, F, Nguyen-Dumont, T, Hammet, F, Neuhausen, SL, John, EM, Andrulis, IL, Chenevix-Trench, G, Baglietto, L, Le Calvez-Kelm, F, Pertesi, M, Lonie, A, Pope, B, Sinilnikova, O, Tsimiklis, H, Giles, GG, Hopper, JL, Tavtigian, SV, Goldgar, DE
Published 2012

Tumour morphology predicts PALB2 germline mutation status

by Teo, Z L, Provenzano, E, Dite, G S, Park, D J, Apicella, C, Sawyer, S D, James, P A, Mitchell, G, Trainer, A H, Lindeman, G J, Shackleton, K, Cicciarelli, L, Buys, S S, Andrulis, I L, Mulligan, A M, Glendon, G, John, E M, Terry, M B, Daly, M, Odefrey, F A, Nguyen-Dumont, T, Giles, G G, Dowty, J G, Winship, I, Goldgar, D E, Hopper, J L, Southey, M C
Published 2013

Multigene testing of moderate-risk genes: be mindful of the missense

by Young, E L, Feng, B J, Stark, A W, Damiola, F, Durand, G, Forey, N, Francy, T C, Gammon, A, Kohlmann, W K, Kaphingst, K A, McKay-Chopin, S, Nguyen-Dumont, T, Oliver, J, Paquette, A M, Pertesi, M, Robinot, N, Rosenthal, J S, Vallee, M, Voegele, C, Hopper, J L, Southey, M C, Andrulis, I L, John, E M, Hashibe, M, Gertz, J, Le Calvez-Kelm, F, Lesueur, F, Goldgar, D E, Tavtigian, S V
Published 2016

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

by Southey, Melissa C, Park, Daniel J, Nguyen-Dumont, Tu, Campbell, Ian, Thompson, Ella, Trainer, Alison H, Chenevix-Trench, Georgia, Simard, Jacques, Dumont, Martine, Soucy, Penny, Thomassen, Mads, Jønson, Lars, Pedersen, Inge S, Hansen, Thomas VO, Nevanlinna, Heli, Khan, Sofia, Sinilnikova, Olga, Mazoyer, Sylvie, Lesueur, Fabienne, Damiola, Francesca, Schmutzler, Rita, Meindl, Alfons, Hahnen, Eric, Dufault, Michael R, Chris Chan, TL, Kwong, Ava, Barkardóttir, Rosa, Radice, Paolo, Peterlongo, Paolo, Devilee, Peter, Hilbers, Florentine, Benitez, Javier, Kvist, Anders, Törngren, Therese, Easton, Douglas, Hunter, David, Lindstrom, Sara, Kraft, Peter, Zheng, Wei, Gao, Yu-Tang, Long, Jirong, Ramus, Susan, Feng, Bing-Jian, Weitzel, Jeffrey N, Nathanson, Katherine, Offit, Kenneth, Joseph, Vijai, Robson, Mark, Schrader, Kasmintan, Wang, San Ming, Kim, Yeong C, Lynch, Henry, Snyder, Carrie, Tavtigian, Sean, Neuhausen, Susan, Couch, Fergus J, Goldgar, David E
Published 2013