日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

澳大利亚家族性癌症中心国家级审查中发现的乳腺癌风险变异体未被充分认识的可操作性

Fortuno, Cristina; Cops, Elisa J; Davidson, Aimee L; Hadler, Johanna; Innella, Giovanni; McKenzie, Maddison E; Parsons, Michael; Campbell, Ainsley M; Dubowsky, Andrew; Fargas, Verna; Field, Michael J; Mar Fan, Helen G; Nichols, Cassandra B; Poplawski, Nicola K; Warwick, Linda; Williams, Rachel; Beshay, Victoria; Edwards, Caitlin; Johns, Andrea; McPhillips, Mary; Kumar, Vanessa Siva; Scott, Rodney; Williams, Mark; Scott, Hamish; James, Paul A; Spurdle, Amanda B

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study

全基因组测序在检测癌症易感变异方面的临床应用价值和成本——一项多中心前瞻性队列研究

Davidson, Aimee L; Dressel, Uwe; Norris, Sarah; Canson, Daffodil M; Glubb, Dylan M; Fortuno, Cristina; Hollway, Georgina E; Parsons, Michael T; Vidgen, Miranda E; Holmes, Oliver; Koufariotis, Lambros T; Lakis, Vanessa; Leonard, Conrad; Wood, Scott; Xu, Qinying; McCart Reed, Amy E; Pickett, Hilda A; Al-Shinnag, Mohammad K; Austin, Rachel L; Burke, Jo; Cops, Elisa J; Nichols, Cassandra B; Goodwin, Annabel; Harris, Marion T; Higgins, Megan J; Ip, Emilia L; Kiraly-Borri, Catherine; Lau, Chiyan; Mansour, Julia L; Millward, Michael W; Monnik, Melissa J; Pachter, Nicholas S; Ragunathan, Abiramy; Susman, Rachel D; Townshend, Sharron L; Trainer, Alison H; Troth, Simon L; Tucker, Katherine M; Wallis, Mathew J; Walsh, Maie; Williams, Rachel A; Winship, Ingrid M; Newell, Felicity; Tudini, Emma; Pearson, John V; Poplawski, Nicola K; Mar Fan, Helen G; James, Paul A; Spurdle, Amanda B; Waddell, Nicola; Ward, Robyn L

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

RUNX1、GATA2 和 DDX41 基因种系变异引起的遗传性造血系统恶性肿瘤的体细胞突变图谱

Homan, Claire C; Drazer, Michael W; Yu, Kai; Lawrence, David M; Feng, Jinghua; Arriola-Martinez, Luis; Pozsgai, Matthew J; McNeely, Kelsey E; Ha, Thuong; Venugopal, Parvathy; Arts, Peer; King-Smith, Sarah L; Cheah, Jesse; Armstrong, Mark; Wang, Paul; Bödör, Csaba; Cantor, Alan B; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D; Duployez, Nicolas; Favier, Remi; Fröhling, Stefan; Rio-Machin, Ana; Klco, Jeffery M; Krämer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Kim, Erika; Sood, Raman; Hsu, Amy P; Holland, Steven M; Phillips, Kerry; Poplawski, Nicola K; Babic, Milena; Wei, Andrew H; Forsyth, Cecily; Mar Fan, Helen; Lewis, Ian D; Cooney, Julian; Susman, Rachel; Fox, Lucy C; Blombery, Piers; Singhal, Deepak; Hiwase, Devendra; Phipson, Belinda; Schreiber, Andreas W; Hahn, Christopher N; Scott, Hamish S; Liu, Paul; Godley, Lucy A; Brown, Anna L

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

DNA错配修复基因变异分类:评估体细胞突变和错配修复缺陷在结肠隐窝和子宫内膜腺体中的应用价值

Walker, Romy; Mahmood, Khalid; Como, Julia; Clendenning, Mark; Joo, Jihoon E; Georgeson, Peter; Joseland, Sharelle; Preston, Susan G; Pope, Bernard J; Chan, James M; Austin, Rachel; Bojadzieva, Jasmina; Campbell, Ainsley; Edwards, Emma; Gleeson, Margaret; Goodwin, Annabel; Harris, Marion T; Ip, Emilia; Kirk, Judy; Mansour, Julia; Mar Fan, Helen; Nichols, Cassandra; Pachter, Nicholas; Ragunathan, Abiramy; Spigelman, Allan; Susman, Rachel; Christie, Michael; Jenkins, Mark A; Pai, Rish K; Rosty, Christophe; Macrae, Finlay A; Winship, Ingrid M; Buchanan, Daniel D

Germline pathogenic SMARCA4 variants in neuroblastoma

神经母细胞瘤中的种系致病性SMARCA4变异

Witkowski, Leora; Nichols, Kim E; Jongmans, Marjolijn; van Engelen, Nienke; de Krijger, Ronald R; Herrera-Mullar, Jennifer; Tytgat, Lieve; Bahrami, Armita; Mar Fan, Helen; Davidson, Aimee L; Robertson, Thomas; Anderson, Michael; Hasselblatt, Martin; Plon, Sharon E; Foulkes, William D

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

RUNX1突变家族表现出表型异质性,并具有生殖系易感急性髓系白血病特有的体细胞突变谱。

Brown, Anna L; Arts, Peer; Carmichael, Catherine L; Babic, Milena; Dobbins, Julia; Chong, Chan-Eng; Schreiber, Andreas W; Feng, Jinghua; Phillips, Kerry; Wang, Paul P S; Ha, Thuong; Homan, Claire C; King-Smith, Sarah L; Rawlings, Lesley; Vakulin, Cassandra; Dubowsky, Andrew; Burdett, Jessica; Moore, Sarah; McKavanagh, Grace; Henry, Denae; Wells, Amanda; Mercorella, Belinda; Nicola, Mario; Suttle, Jeffrey; Wilkins, Ella; Li, Xiao-Chun; Michaud, Joelle; Brautigan, Peter; Cannon, Ping; Altree, Meryl; Jaensch, Louise; Fine, Miriam; Butcher, Carolyn; D'Andrea, Richard J; Lewis, Ian D; Hiwase, Devendra K; Papaemmanuil, Elli; Horwitz, Marshall S; Natsoulis, Georges; Rienhoff, Hugh Y; Patton, Nigel; Mapp, Sally; Susman, Rachel; Morgan, Susan; Cooney, Julian; Currie, Mark; Popat, Uday; Bochtler, Tilmann; Izraeli, Shai; Bradstock, Kenneth; Godley, Lucy A; Krämer, Alwin; Fröhling, Stefan; Wei, Andrew H; Forsyth, Cecily; Mar Fan, Helen; Poplawski, Nicola K; Hahn, Christopher N; Scott, Hamish S

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

ACTG2基因中精氨酸的反复替换是内脏肌病疾病负担和严重程度的主要驱动因素。

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F

Comparison of the Glidescope®, flexible fibreoptic intubating bronchoscope, iPhone modified bronchoscope, and the Macintosh laryngoscope in normal and difficult airways: a manikin study

在正常和困难气道中,Glidescope®、柔性纤维支气管镜、iPhone改良型支气管镜和麦金托什喉镜的比较:一项人体模型研究

Langley, Adrian; Mar Fan, Gabriel