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

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

160. Maternal and Infant Outcomes Following Maternal Exposure to SARS-CoV-2 During Pregnancy in an Australian Cohort

por Hill, Rachel, Gibbons, Andrew, Han, Uni, Suwakulsiri, Wittaya, Taeska, Angela, Hammet, Fleur, Southey, Melissa, Malhotra, Atul, Fahey, Michael, Palmer, Kirsten, Hunt, Rod, Lim, Izaak, Newman-Morris, Vesna, Sundram, Suresh
Publicado 2023

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

Maternal SARS-CoV-2 exposure alters infant DNA methylation

por Hill, Rachel A., Gibbons, Andrew, Han, Uni, Suwakulsiri, Wittaya, Taseska, Angela, Hammet, Fleur, Southey, Melissa, Malhotra, Atul, Fahey, Michael, Palmer, Kirsten R., Hunt, Rod W., Lim, Izaak, Newman-Morris, Vesna, Sundram, Suresh
Publicado 2022

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

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

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

por Nguyen-Dumont, Tú, Teo, Zhi L., Hammet, Fleur, Roberge, Alexis, Mahmoodi, Maryam, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Lonie, Andrew, Kapuscinski, Miroslav K., Mahmood, Khalid, Goldgar, David E., Giles, Graham G., Winship, Ingrid, Hopper, John L., Southey, Melissa C.
Publicado 2018

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

por Nguyen-Dumont, Tu, Karpinski, Pawel, Sasiadek, Maria M., Akopyan, Hayane, Steen, Jason A., Theys, Derrick, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J., Pope, Bernard J., Slezak, Ryszard, Stembalska, Agnieszka, Pesz, Karolina, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C., Myszka, Aleksander
Publicado 2020

VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association

por Dugué, Pierre-Antoine, Yu, Chenglong, McKay, Timothy, Wong, Ee Ming, Joo, Jihoon Eric, Tsimiklis, Helen, Hammet, Fleur, Mahmoodi, Maryam, Theys, Derrick, , kConFab, Hopper, John L., Giles, Graham G., Milne, Roger L., Steen, Jason A., Dowty, James G., Nguyen-Dumont, Tu, Southey, Melissa C.
Publicado 2021

Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer

por Nguyen-Dumont, Tú, Dowty, James G., MacInnis, Robert J., Steen, Jason A., Riaz, Moeen, Dugué, Pierre-Antoine, Renault, Anne-Laure, Hammet, Fleur, Mahmoodi, Maryam, Theys, Derrick, Tsimiklis, Helen, Severi, Gianluca, Bolton, Damien, Lacaze, Paul, Sebra, Robert, Schadt, Eric, McNeil, John, Giles, Graham G., Milne, Roger L., Southey, Melissa C.
Publicado 2021

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

por Southey, Melissa C., Dowty, James G., Riaz, Moeen, Steen, Jason A., Renault, Anne-Laure, Tucker, Katherine, Kirk, Judy, James, Paul, Winship, Ingrid, Pachter, Nicholas, Poplawski, Nicola, Grist, Scott, Park, Daniel J., Pope, Bernard J., Mahmood, Khalid, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Theys, Derrick, Rewse, Amanda, Willis, Amanda, Morrow, April, Speechly, Catherine, Harris, Rebecca, Sebra, Robert, Schadt, Eric, Lacaze, Paul, McNeil, John J., Giles, Graham G., Milne, Roger L., Hopper, John L., Nguyen-Dumont, Tú
Publicado 2021

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

por Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W.R., Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K., Van ‘t Veer, Laura J., Braaf, Linde M., Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C., Hopper, John L., Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L., Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I., Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J., Tollenaar, Robert A.E.M., Hooning, Maartje J., Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L., Arias, José Ignacio, Zamora, M. Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G., kConFab, Group, AOCS Study, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A., Caligo, Maria A., Godwin, Andrew K., Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L., Domchek, Susan M., SWE-BRCA, Loman, Niklas, Karlsson, Per, Askmalm, Marie Stenmark, Melin, Beatrice, von Wachenfeldt, Anna, HEBON, Hogervorst, Frans B. L., Verheus, Martijn, Rookus, Matti A., Seynaeve, Caroline, Oldenburg, Rogier A., Ligtenberg, Marjolijn J., Ausems, Margreet G.E.M., Aalfs, Cora M., Gille, Hans J.P., Wijnen, Juul T., Gómez García, Encarna B., EMBRACE, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D. Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D.P., Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado 2012