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

por Southey, Melissa C., Winship, Ingrid, Nguyen-Dumont, Tú
Publicado 2016

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

por Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J
Publicado 2014

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

por Park, Daniel J, Nguyen-Dumont, Tú, Kang, Sori, Verspoor, Karin, Pope, Bernard J
Publicado 2014

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

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

Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

por Garritano, Sonia, Gemignani, Federica, Voegele, Catherine, Nguyen-Dumont, Tú, Le Calvez-Kelm, Florence, De Silva, Deepika, Lesueur, Fabienne, Landi, Stefano, Tavtigian, Sean V
Publicado 2009

Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM

por Renault, Anne-Laure, Dowty, James G., Steen, Jason A., Li, Shuai, Winship, Ingrid M., Giles, Graham G., Hopper, John L., Southey, Melissa C., Nguyen-Dumont, Tú
Publicado 2022

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

por 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
Publicado 2011

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

por 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
Publicado 2013

Association of variably methylated tumour DNA regions with overall survival for invasive lobular breast cancer

por Suman, Medha, Dugué, Pierre-Antoine, Wong, Ee Ming, Joo, JiHoon Eric, Hopper, John L., Nguyen-Dumont, Tu, Giles, Graham G., Milne, Roger L., McLean, Catriona, Southey, Melissa C.
Publicado 2021

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

por 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
Publicado 2013

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

por Nguyen-Dumont, Tú, Myszka, Aleksander, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publicado 2018

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

por Myszka, Aleksander, Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C.
Publicado 2017

Heritable methylation marks associated with prostate cancer risk

por Dowty, James G., Yu, Chenglong, Hosseinpour, Mahnaz, Joo, Jihoon Eric, Wong, Ee Ming, Nguyen-Dumont, Tu, Rosenbluh, Joseph, Giles, Graham G., Milne, Roger L., MacInnis, Robert J., Dugué, Pierre-Antoine, Southey, Melissa C.
Publicado 2023

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

por 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
Publicado 2013

Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models

por Li, Sherly X., Milne, Roger L., Nguyen-Dumont, Tú, English, Dallas R., Giles, Graham G., Southey, Melissa C., Antoniou, Antonis C., Lee, Andrew, Winship, Ingrid, Hopper, John L., Terry, Mary Beth, MacInnis, Robert J.
Publicado 2021

Repeatability of methylation measures using a QIAseq targeted methyl panel and comparison with the Illumina HumanMethylation450 assay

por Yu, Chenglong, Dugué, Pierre-Antoine, Dowty, James G., Hammet, Fleur, Joo, JiHoon E., Wong, Ee Ming, Hosseinpour, Mahnaz, Giles, Graham G., Hopper, John L., Nguyen-Dumont, Tu, MacInnis, Robert J., Southey, Melissa C.
Publicado 2021

Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

por Nguyen-Dumont, Tú, Dowty, James G., Steen, Jason A., Renault, Anne-Laure, Hammet, Fleur, Mahmoodi, Maryam, Theys, Derrick, Rewse, Amanda, Tsimiklis, Helen, Winship, Ingrid M., Giles, Graham G., Milne, Roger L., Hopper, John L., Southey, Melissa C.
Publicado 2021

Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk

por Nguyen, Tuong L., Li, Shuai, Dowty, James G., Dite, Gillian S., Ye, Zhoufeng, Nguyen-Dumont, Tu, Trinh, Ho N., Evans, Christopher F., Tan, Maxine, Sung, Joohon, Jenkins, Mark A., Giles, Graham G., Southey, Melissa C., Hopper, John L.
Publicado 2022

Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk

por Li, Shuai, Nguyen, Tuong L., Nguyen-Dumont, Tu, Dowty, James G., Dite, Gillian S., Ye, Zhoufeng, Trinh, Ho N., Evans, Christopher F., Tan, Maxine, Sung, Joohon, Jenkins, Mark A., Giles, Graham G., Hopper, John L., Southey, Melissa C.
Publicado 2022

Prospective Evaluation of the Addition of Polygenic Risk Scores to Breast Cancer Risk Models

por Li, Sherly X, Milne, Roger L, Nguyen-Dumont, Tu, Wang, Xiaochuan, English, Dallas R, Giles, Graham G, Southey, Melissa C, Antoniou, Antonis C, Lee, Andrew, Li, Shuai, Winship, Ingrid, Hopper, John L, Terry, Mary Beth, MacInnis, Robert J
Publicado 2021