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2023

Journal Article

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

Yuan, Yuan, Ju, Young Seok, Kim, Youngwook, Li, Jun, Wang, Yumeng, Yoon, Christopher J., Yang, Yang, Martincorena, Inigo, Creighton, Chad J., Weinstein, John N., Xu, Yanxun, Han, Leng, Kim, Hyung-Lae, Nakagawa, Hidewaki, Park, Keunchil, Campbell, Peter J., Liang, Han, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat ... von Mering, Christian (2023). Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics, 55 (5), 892-892. doi: 10.1038/s41588-020-0629-y

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

2023

Journal Article

Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

Yuan, Yuan, Ju, Young Seok, Kim, Youngwook, Li, Jun, Wang, Yumeng, Yoon, Christopher J., Yang, Yang, Martincorena, Inigo, Creighton, Chad J., Weinstein, John N., Xu, Yanxun, Han, Leng, Kim, Hyung-Lae, Nakagawa, Hidewaki, Park, Keunchil, Campbell, Peter J., Liang, Han, Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat ... von Mering, Christian (2023). Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x). Nature Genetics, 55 (5), 893-893. doi: 10.1038/s41588-020-0587-4

Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers (Nature Genetics, (2020), 52, 3, (342-352), 10.1038/s41588-019-0557-x)

2023

Journal Article

Cutting-edge cancer genomics saving lives

McCart Reed, Amy, Boughtwood, Tiffany and Simpson, Peter (2023). Cutting-edge cancer genomics saving lives. MJA Insight.

Cutting-edge cancer genomics saving lives

2023

Journal Article

Australian genomics: outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Stark, Zornitza, Boughtwood, Tiffany, Haas, Matilda, Braithwaite, Jeffrey, Gaff, Clara L., Goranitis, Ilias, Spurdle, Amanda B., Hansen, David P., Hofmann, Oliver, Laing, Nigel, Metcalfe, Sylvia, Newson, Ainsley J., Scott, Hamish S., Thorne, Natalie, Ward, Robyn L., Dinger, Marcel E., Best, Stephanie, Long, Janet C., Grimmond, Sean M., Pearson, John, Waddell, Nicola, Barnett, Christopher P., Cook, Matthew, Field, Michael, Fielding, David, Fox, Stephen B., Gecz, Jozef, Jaffe, Adam, Leventer, Richard J. ... North, Kathryn N. (2023). Australian genomics: outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics, 110 (3), 419-426. doi: 10.1016/j.ajhg.2023.01.018

Australian genomics: outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

2023

Journal Article

Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0)

Calabrese, Claudia, Davidson, Natalie R., Demircioğlu, Deniz, Fonseca, Nuno A., He, Yao, Kahles, André, Lehmann, Kjong-Van, Liu, Fenglin, Shiraishi, Yuichi, Soulette, Cameron M., Urban, Lara, Calabrese, Claudia, Davidson, Natalie R., Demircioğlu, Deniz, Fonseca, Nuno A., He, Yao, Kahles, André, Lehmann, Kjong-Van, Liu, Fenglin, Shiraishi, Yuichi, Soulette, Cameron M., Urban, Lara, Greger, Liliana, Li, Siliang, Liu, Dongbing, Perry, Marc D., Xiang, Qian, Zhang, Fan, Zhang, Junjun ... von Mering, Christian (2023). Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0). Nature, 614 (7948). doi: 10.1038/s41586-022-05596-y

Author Correction: Genomic basis for RNA alterations in cancer (Nature, (2020), 578, 7793, (129-136), 10.1038/s41586-020-1970-0)

2023

Journal Article

Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6)

Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Al-Shahrour, Fatima, Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole, Anderson, Matthew J., Ang, Yeng, Antonello, Davide, Anur, Pavana ... von Mering, Christian (2023). Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6). Nature, 614 (7948). doi: 10.1038/s41586-022-05598-w

Author Correction: Pan-cancer analysis of whole genomes (Nature, (2020), 578, 7793, (82-93), 10.1038/s41586-020-1969-6)

2023

Journal Article

Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9)

Li, Yilong, Roberts, Nicola D., Wala, Jeremiah A., Shapira, Ofer, Schumacher, Steven E., Kumar, Kiran, Khurana, Ekta, Waszak, Sebastian, Korbel, Jan O., Haber, James E., Imielinski, Marcin, Akdemir, Kadir C., Alvarez, Eva G., Baez-Ortega, Adrian, Beroukhim, Rameen, Boutros, Paul C., Bowtell, David D. L., Brors, Benedikt, Burns, Kathleen H., Campbell, Peter J., Chan, Kin, Chen, Ken, Cortés-Ciriano, Isidro, Dueso-Barroso, Ana, Dunford, Andrew J., Edwards, Paul A., Estivill, Xavier, Etemadmoghadam, Dariush, Feuerbach, Lars ... von Mering, Christian (2023). Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9). Nature, 614 (7948), E38-E38. doi: 10.1038/s41586-022-05597-x

Author Correction: Patterns of somatic structural variation in human cancer genomes (Nature, (2020), 578, 7793, (112-121), 10.1038/s41586-019-1913-9)

2023

Conference Publication

Diff-Quik smears from EBUS TBNA procedures: Evaluating measures of tumour cellularity and feasibility of whole genome sequencing (WGS)

Fielding, David, Dalley, Andrew, Singh, Mahendra, Nandakumar, Lakshmy, Lakis, Vanessa, Chittoory, Haarika, Bashirzadeh, Farzad, Bint, Michael, Pahoff, Carl, Son, Jung, Hodgson, Alan, Sharma, Sowmya, Godbolt, David, Coleman, Kylie, Whitfield, Lenore, Waddell, Nicola, Lakhani, Sunil, Nones, Katia, Hartel, Gunter and Simpson, Peter (2023). Diff-Quik smears from EBUS TBNA procedures: Evaluating measures of tumour cellularity and feasibility of whole genome sequencing (WGS). 26th Congress of the Asian Pacific Society of Respirology Above and Beyond, Seoul, Korea, 17-20 November 2022. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/resp.14433

Diff-Quik smears from EBUS TBNA procedures: Evaluating measures of tumour cellularity and feasibility of whole genome sequencing (WGS)

2023

Journal Article

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U., Antonenkova, Natalia N., Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J., Bogdanova, Natalia V., Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chanock, Stephen J., Alnæs, Grethe I. Grenaker, Sørlie, Therese, Skjerven, Helle Kristine, Russnes, Hege G., Mælandsmo, Gunhild Mari, Lingjærde, Ole Christian, Langerød, Anita, Hofvind, Solveig, Geitvik, Gry Aarum, Garred, Øystein, Fritzman, Britt ... Peterlongo, Paolo (2023). FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women. European Journal of Human Genetics, 31 (5), 578-587. doi: 10.1038/s41431-022-01257-w

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

2023

Journal Article

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

Sokolova, A, Johnstone, K J, McCart Reed, A E, Simpson, P T and Lakhani, S R (2023). Hereditary breast cancer: syndromes, tumour pathology and molecular testing. Histopathology, 82 (1), 70-82. doi: 10.1111/his.14808

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

2022

Journal Article

Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8)

Cmero, Marek, Yuan, Ke, Ong, Cheng Soon, Schröder, Jan, Adams, David J., Anur, Pavana, Beroukhim, Rameen, Boutros, Paul C., Bowtell, David D. L., Campbell, Peter J., Cao, Shaolong, Christie, Elizabeth L., Cun, Yupeng, Dawson, Kevin J., Demeulemeester, Jonas, Dentro, Stefan C., Deshwar, Amit G., Donmez, Nilgun, Drews, Ruben M., Eils, Roland, Fan, Yu, Fittall, Matthew W., Garsed, Dale W., Gerstung, Moritz, Getz, Gad, Gonzalez, Santiago, Ha, Gavin, Haase, Kerstin, Imielinski, Marcin ... von Mering, Christian (2022). Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8). Nature Communications, 13 (1) 7568. doi: 10.1038/s41467-022-32338-5

Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8)

2022

Journal Article

Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x)

Bhandari, Vinayak, Li, Constance H., Bristow, Robert G., Boutros, Paul C., Aaltonen, Lauri A., Abascal, Federico, Abeshouse, Adam, Aburatani, Hiroyuki, Adams, David J., Agrawal, Nishant, Ahn, Keun Soo, Ahn, Sung-Min, Aikata, Hiroshi, Akbani, Rehan, Akdemir, Kadir C., Al-Ahmadie, Hikmat, Al-Sedairy, Sultan T., Al-Shahrour, Fatima, Alawi, Malik, Albert, Monique, Aldape, Kenneth, Alexandrov, Ludmil B., Ally, Adrian, Alsop, Kathryn, Alvarez, Eva G., Amary, Fernanda, Amin, Samirkumar B., Aminou, Brice, Ammerpohl, Ole ... von Mering, Christian (2022). Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x). Nature Communications, 13 (1) 7569. doi: 10.1038/s41467-022-32339-4

Author Correction: Divergent mutational processes distinguish hypoxic and normoxic tumours (Nature Communications, (2020), 11, 1, (737), 10.1038/s41467-019-14052-x)

2022

Journal Article

Comprehensive histopathologic and genomic analysis of a novel case of lipoblastoma-like tumour of the vulva demonstrating malignant behaviour

Kutasovic, Jamie R., Nones, Katia, Lakis, Vanessa, Koufariotis, Lambros T., Ferguson, Kaltin, McCart Reed, Amy E., Simpson, Peter T., Lakhani, Sunil R., Mar Fan, Helen, Higgins, Megan, Davies, Janene, Payton, Diane and Taege, Lucinda (2022). Comprehensive histopathologic and genomic analysis of a novel case of lipoblastoma-like tumour of the vulva demonstrating malignant behaviour. Human Pathology Reports, 30 300678, 300678-30. doi: 10.1016/j.hpr.2022.300678

Comprehensive histopathologic and genomic analysis of a novel case of lipoblastoma-like tumour of the vulva demonstrating malignant behaviour

2022

Journal Article

Prospective optimization of endobronchial ultrasound-guided transbronchial needle aspiration lymph node assessment for lung cancer: Three needle agitations are noninferior to 10 agitations for adequate tumor cell and DNA yield

Fielding, David, Dalley, Andrew J., Singh, Mahendra, Nandakumar, Lakshmy, Nones, Katia, Lakis, Vanessa, Chittoory, Haarika, Ferguson, Kaltin, Bashirzadeh, Farzad, Bint, Michael, Pahoff, Carl, Son, Jung Hwa, Hodgson, Alan, Sharma, Sowmya, Godbolt, David, Coleman, Kylie, Whitfield, Lenore, Waddell, Nicola, Lakhani, Sunil R., Hartel, Gunter and Simpson, Peter T. (2022). Prospective optimization of endobronchial ultrasound-guided transbronchial needle aspiration lymph node assessment for lung cancer: Three needle agitations are noninferior to 10 agitations for adequate tumor cell and DNA yield. JTO Clinical and Research Reports, 3 (10) 100403, 100403. doi: 10.1016/j.jtocrr.2022.100403

Prospective optimization of endobronchial ultrasound-guided transbronchial needle aspiration lymph node assessment for lung cancer: Three needle agitations are noninferior to 10 agitations for adequate tumor cell and DNA yield

2022

Conference Publication

Breast cancer in Honiara - a retrospective audit

Stacey, A., Simpson, P., McCart-Reed, A. and Cummings, M. (2022). Breast cancer in Honiara - a retrospective audit. 34th International Congress of the International Academy of Pathology, Sydney, NSW Australia, 1-15 October 2022. Chichester, West Sussex, United Kingdom: Wiley-Blackwell Publishing. doi: 10.1111/his.14739

Breast cancer in Honiara - a retrospective audit

2022

Journal Article

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

Ramarao-Milne, P, Kondrashova, O, Patch, A-M, Nones, K, Koufariotis, L T, Newell, F, Addala, V, Lakis, V, Holmes, O, Leonard, C, Wood, S, Xu, Q, Mukhopadhyay, P, Naeini, M M, Steinfort, D, Williamson, J P, Bint, M, Pahoff, C, Nguyen, P T, Twaddell, S, Arnold, D, Grainge, C, Basirzadeh, F, Fielding, D, Dalley, A J, Chittoory, H, Simpson, P T, Aoude, L G, Bonazzi, V F ... Waddell, N (2022). Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels. ESMO Open, 7 (4) 100540, 1-11. doi: 10.1016/j.esmoop.2022.100540

Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

2022

Journal Article

Epigenome erosion and SOX10 drive neural crest phenotypic mimicry in triple-negative breast cancer

Saunus, Jodi M., De Luca, Xavier M., Northwood, Korinne, Raghavendra, Ashwini, Hasson, Alexander, McCart Reed, Amy E., Lim, Malcolm, Lal, Samir, Vargas, A. Cristina, Kutasovic, Jamie R., Dalley, Andrew J., Miranda, Mariska, Kalaw, Emarene, Kalita-de Croft, Priyakshi, Gresshoff, Irma, Al-Ejeh, Fares, Gee, Julia M. W., Ormandy, Chris, Khanna, Kum Kum, Beesley, Jonathan, Chenevix-Trench, Georgia, Green, Andrew R., Rakha, Emad A., Ellis, Ian O., Nicolau, Dan V., Simpson, Peter T. and Lakhani, Sunil R. (2022). Epigenome erosion and SOX10 drive neural crest phenotypic mimicry in triple-negative breast cancer. npj Breast Cancer, 8 (1) 57, 1-16. doi: 10.1038/s41523-022-00425-x

Epigenome erosion and SOX10 drive neural crest phenotypic mimicry in triple-negative breast cancer

2022

Journal Article

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

Ganesamoorthy, Devika, Robertson, Alan James, Chen, Wenhan, Hall, Michael B., Cao, Minh Duc, Ferguson, Kaltin, Lakhani, Sunil R., Nones, Katia, Simpson, Peter T. and Coin, Lachlan J. M. (2022). Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content. BMC Cancer, 22 (1) 85, 85. doi: 10.1186/s12885-021-09160-1

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

2022

Journal Article

Blood-derived extracellular vesicle-associated miR-3182 detects non-small cell lung cancer patients

Visan, Kekoolani S., Lobb, Richard J., Wen, Shu Wen, Bedo, Justin, Lima, Luize G., Krumeich, Sophie, Palma, Carlos, Ferguson, Kaltin, Green, Ben, Niland, Colleen, Cloonan, Nicole, Simpson, Peter T., McCart Reed, Amy E., Everitt, Sarah J., MacManus, Michael P., Hartel, Gunter, Salomon, Carlos, Lakhani, Sunil R., Fielding, David and Möller, Andreas (2022). Blood-derived extracellular vesicle-associated miR-3182 detects non-small cell lung cancer patients. Cancers, 14 (1) 257, 257. doi: 10.3390/cancers14010257

Blood-derived extracellular vesicle-associated miR-3182 detects non-small cell lung cancer patients

2022

Book Chapter

Future role of molecular profiling in small breast samples and personalised medicine

Foong, Samuel Y. F., Simpson, Peter T., Cummings, Margaret C. and Lakhani, Sunil R. (2022). Future role of molecular profiling in small breast samples and personalised medicine. A comprehensive guide to core needle biopsies of the breast. (pp. 895-915) edited by Sandra J. Shin, Yunn-Yi Chen and Paula S. Ginter. Cham, Switzerland: Springer International Publishing. doi: 10.1007/978-3-031-05532-4_23

Future role of molecular profiling in small breast samples and personalised medicine