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The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures 生殖系POLD1 c.1420 C > A (p.Leu474Ile)变异与子宫内膜癌、结直肠癌和结肠息肉共存,表现出超突变和POLD1突变谱异常的特征。 Buchanan, Daniel D.; Georgeson, Peter; Walker, Romy; Joo, Jihoon E.; Clendenning, Mark; Como, Julia; O'keeffe, Ryan; Prisc, Alysha; Chu, Yen Lin; Jenkins, Mark A.; Rosty, Christophe; Winship, Ingrid M.; Macrae, Finlay A.; Ip, Emilia; Harris, Rebecca; Goodwin, Annabel; Mahmood, Khalid 分享 收藏
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Intratumoural pks+ Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome 肿瘤内的pks+大肠杆菌与林奇综合征患者发生异时性结直肠癌和腺瘤发展的风险相关 Chu, Yen Lin; Georgeson, Peter; Clendenning, Mark; Mahmood, Khalid; Walker, Romy; Como, Julia; Joseland, Sharelle; Preston, Susan G.; Rice, Toni; Lynch, Brigid M.; Milne, Roger L.; Southey, Melissa C.; Giles, Graham G.; Phipps, Amanda I.; Hopper, John L.; Win, Aung K.; Rosty, Christophe; Macrae, Finlay A.; Winship, Ingrid; Jenkins, Mark A.; Buchanan, Daniel D.; Joo, Jihoon E. 分享 收藏
Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource McGahan, Ella; Berkman, Jennifer; Milne, David; Terrill, Bronwyn; Gear, Russell; Gardiner, Susan; Eckstein, Lisa; Nicol, Dianne; Taylor, Natalie; Winship, Ingrid; McWhirter, Rebekah; Nisselle, Amy; Lodge, Jason; McInerney-Leo, Aideen 分享 收藏
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Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O'Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J. 分享 收藏
Skin fragility and wound management in Ehlers-Danlos syndromes: a report by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group Angwin, Chloe; Doolan, Brent J.; Hausser, Ingrid; Labine, Barry; Lavallee, Mark; Mackay, Donald; Pope, F. Michael; Seneviratne, Suranjith L.; Winship, Ingrid; Burrows, Nigel P. 分享 收藏
Uninsurable because of a genetic test: a qualitative study of consumer views about the use of genetic test results in Australian life insurance Muller, Cassandra; Gallacher, Lyndon; Keogh, Louise; McInerney-Leo, Aideen; Boughtwood, Tiffany; Gleeson, Penny; Barlow-Stewart, Kristine; Delatycki, Martin B.; Winship, Ingrid; Nowak, Kristen J.; Otlowski, Margaret; Lacaze, Paul; Tiller, Jane 分享 收藏
Intratumoral presence of the genotoxic gut bacteria pks+E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer Joo, Jihoon E.; Chu, Yen Lin; Georgeson, Peter; Walker, Romy; Mahmood, Khalid; Clendenning, Mark; Meyers, Aaron L.; Como, Julia; Joseland, Sharelle; Preston, Susan G.; Diepenhorst, Natalie; Toner, Julie; Ingle, Danielle J.; Sherry, Norelle L.; Metz, Andrew; Lynch, Brigid M.; Milne, Roger L.; Southey, Melissa C.; Hopper, John L.; Win, Aung Ko; Macrae, Finlay A.; Winship, Ingrid M.; Rosty, Christophe; Jenkins, Mark A.; Buchanan, Daniel D. 分享 收藏
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Combined population genomic screening for three high-risk conditions in Australia: a modelling study Lacaze, Paul; Marquina, Clara; Tiller, Jane; Brotchie, Adam; Kang, Yoon-Jung; Merritt, Melissa A.; Green, Robert C.; Watts, Gerald F.; Nowak, Kristen J.; Manchanda, Ranjit; Canfell, Karen; James, Paul; Winship, Ingrid; McNeil, John J.; Ademi, Zanfina 分享 收藏
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