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

Consumer acceptability of a cancer registry-driven familial cancer testing pathway: a qualitative study using the Theoretical Framework of Acceptability

消费者对以癌症登记为导向的家族性癌症检测路径的接受度:一项基于接受度理论框架的定性研究

Fehlberg, Zoe; Evans, Sue M; Bechelli, Maria; Peters, Sanne; Abraham, Anu; Bogwitz, Michael; Campbell, Ainsley; Van Niel, Halianna; Trainer, Alison H; Best, Stephanie

Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.

对 SDHB 缺乏型嗜铬细胞瘤和副神经节瘤进行多组学分析,可识别转移和治疗相关的分子特征

Flynn Aidan, Pattison Andrew D, Balachander Shiva, Boehm Emma, Bowen Blake, Dwight Trisha, Rossello Fernando J, Hofmann Oliver, Martelotto Luciano, Zethoven Maia, Kirschner Lawrence S, Else Tobias, Fishbein Lauren, Gill Anthony J, Tischler Arthur S, Giordano Thomas, Prodanov Tamara, Noble Jane R, Reddel Roger R, Trainer Alison H, Ghayee Hans Kumar, Bourdeau Isabelle, Elston Marianne, Ishak Diana, Ngeow Yuen Yie Joanne, Hicks Rodney J, Crona Joakim, à kerström Tobias, Stålberg Peter, Dahia Patricia, Grimmond Sean, Clifton-Bligh Roderick, Pacak Karel, Tothill Richard W

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants

一例由成纤维细胞生长因子-23介导的低磷性骨软化症(无致病性PHEX变异)的病例报告及综述

Park, Yeung-Ae; Gong, Joanna Y; Chiang, Cherie; Trainer, Alison H; Yates, Christopher J

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

国家多学科肾脏遗传学诊疗网络的实施与评估(历时10年)

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

Reduced Breast and Ovarian Cancer Through Targeted Genetic Testing: Estimates Using the NEEMO Microsimulation Model

通过靶向基因检测降低乳腺癌和卵巢癌发病率:基于NEEMO微观模拟模型的估算

Petelin, Lara; Cunich, Michelle; Procopio, Pietro; Schofield, Deborah; Devereux, Lisa; Nickson, Carolyn; James, Paul A; Campbell, Ian G; Trainer, Alison H

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

Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol

开发以人为本的数字化平台,为患有成人发病遗传疾病倾向的人群提供长期支持:一项混合方法研究方案

Best, Stephanie; Al Mahmud, Abdullah; Tyagi, Shivani; Wheeler, Jack C W; Forkan, Abdur Rahim Mohammad; Lewis, Alexandra; Shuakat, Nadeem; Kaul, Rohit; Ward, Aisha; Wickramasinghe, Nilmini; Jayaraman, Prem Prakash; Trainer, Alison H

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

利用多基因风险评分评估男性 BRCA1 和 BRCA2 致病变异携带者的乳腺癌和前列腺癌风险

Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barrowdale, Daniel; Barwell, Julian; Belotti, Muriel; Benitez, Javier; Berthet, Pascaline; Boonen, Susanne E; Borg, Åke; Bozsik, Aniko; Brady, Angela F; Brennan, Paul; Brewer, Carole; Brunet, Joan; Bucalo, Agostino; Buys, Saundra S; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Cassingham, Hayley; Christensen, Lise Lotte; Cini, Giulia; Claes, Kathleen B M; Cook, Jackie; Coppa, Anna; Cortesi, Laura; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Putter, Robin; Del Valle, Jesús; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M; Donaldson, Alan; Eason, Jacqueline; Eeles, Ros; Engel, Christoph; Evans, D Gareth; Feliubadaló, Lidia; Fostira, Florentia; Frone, Megan; Frost, Debra; Gallagher, David; Gehrig, Andrea; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gregory, Helen; Gross, Eva; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V O; Hanson, Helen; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Izquierdo, Angel; James, Paul A; Janavicius, Ramunas; Jensen, Uffe Birk; Johannsson, Oskar Th; John, Esther M; Kramer, Gero; Kroeldrup, Lone; Kruse, Torben A; Lautrup, Charlotte; Lazaro, Conxi; Lesueur, Fabienne; Lopez-Fernández, Adria; Mai, Phuong L; Manoukian, Siranoush; Matrai, Zoltan; Matricardi, Laura; Maxwell, Kara N; Mebirouk, Noura; Meindl, Alfons; Montagna, Marco; Monteiro, Alvaro N; Morrison, Patrick J; Muranen, Taru A; Murray, Alex; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nguyen-Dumont, Tu; Niederacher, Dieter; Olah, Edith; Olopade, Olufunmilayo I; Palli, Domenico; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth H; Pinto, Pedro; Porteous, Mary E; Pottinger, Caroline; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Robson, Mark; Rogers, Mark T; Rønlund, Karina; Rump, Andreas; Sánchez de Abajo, Ana María; Shah, Payal D; Sharif, Saba; Side, Lucy E; Singer, Christian F; Stadler, Zsofia; Steele, Linda; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R; Teulé, Alex; Thull, Darcy L; Tischkowitz, Marc; Toland, Amanda E; Tommasi, Stefania; Toss, Angela; Trainer, Alison H; Tripathi, Vishakha; Valentini, Virginia; van Asperen, Christi J; Venturelli, Marta; Viel, Alessandra; Vijai, Joseph; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Whaite, Anna; Zanna, Ines; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J; Schmutzler, Rita K; Simard, Jacques; Easton, Douglas F; Chenevix-Trench, Georgia; Antoniou, Antonis C; Ottini, Laura

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

通过研究发现意外获得具有临床意义的生殖系信息的女性的临床和心理社会结局:一项探索性序贯混合方法比较研究

Forrest, Laura E; Forbes Shepherd, Rowan; Tutty, Erin; Pearce, Angela; Campbell, Ian; Devereux, Lisa; Trainer, Alison H; James, Paul A; Young, Mary-Anne

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

一项仅针对BRCA1/BRCA2突变携带者的病例研究,旨在识别乳腺癌风险的遗传修饰因子

Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A; Dennis, Joe; Tyrer, Jonathan P; Barnes, Daniel R; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K; Adank, Muriel A; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J; Arun, Banu K; Augustinsson, Annelie; Azzollini, Jacopo; Barrowdale, Daniel; Baynes, Caroline; Becher, Heiko; Bermisheva, Marina; Bernstein, Leslie; Białkowska, Katarzyna; Blomqvist, Carl; Bojesen, Stig E; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S; Caldés, Trinidad; Caligo, Maria A; Campa, Daniele; Carter, Brian D; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chung, Wendy K; Claes, Kathleen B M; Clarke, Christine L; Collée, J Margriet; Conroy, Don M; Czene, Kamila; Daly, Mary B; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M; Dwek, Miriam; Eccles, Diana M; Eliassen, A Heather; Engel, Christoph; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Flyger, Henrik; Fostira, Florentia; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gago-Dominguez, Manuela; Gapstur, Susan M; Garber, Judy; Garcia-Barberan, Vanesa; García-Closas, Montserrat; García-Sáenz, José A; Gaudet, Mia M; Gayther, Simon A; Gehrig, Andrea; Georgoulias, Vassilios; Giles, Graham G; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Greene, Mark H; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann, Ute; Harrington, Patricia A; Hart, Steven N; He, Wei; Hogervorst, Frans B L; Hollestelle, Antoinette; Hopper, John L; Horcasitas, Darling J; Hulick, Peter J; Hunter, David J; Imyanitov, Evgeny N; Jager, Agnes; Jakubowska, Anna; James, Paul A; Jensen, Uffe Birk; John, Esther M; Jones, Michael E; Kaaks, Rudolf; Kapoor, Pooja Middha; Karlan, Beth Y; Keeman, Renske; Khusnutdinova, Elza; Kiiski, Johanna I; Ko, Yon-Dschun; Kosma, Veli-Matti; Kraft, Peter; Kurian, Allison W; Laitman, Yael; Lambrechts, Diether; Le Marchand, Loic; Lester, Jenny; Lesueur, Fabienne; Lindstrom, Tricia; Lopez-Fernández, Adria; Loud, Jennifer T; Luccarini, Craig; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Martens, John W M; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Milne, Roger L; Montagna, Marco; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nielsen, Finn C; O'Brien, Katie M; Olopade, Olufunmilayo I; Olson, Janet E; Olsson, Håkan; Osorio, Ana; Ottini, Laura; Park-Simon, Tjoung-Won; Parsons, Michael T; Pedersen, Inge Sokilde; Peshkin, Beth; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D P; Phillips, Kelly-Anne; Polley, Eric C; Poppe, Bruce; Presneau, Nadege; Pujana, Miquel Angel; Punie, Kevin; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad U; Rennert, Gad; Rennert, Hedy S; Robson, Mark; Romero, Atocha; Rossing, Maria; Saloustros, Emmanouil; Sandler, Dale P; Santella, Regina; Scheuner, Maren T; Schmidt, Marjanka K; Schmidt, Gunnar; Scott, Christopher; Sharma, Priyanka; Soucy, Penny; Southey, Melissa C; Spinelli, John J; Steinsnyder, Zoe; Stone, Jennifer; Stoppa-Lyonnet, Dominique; Swerdlow, Anthony; Tamimi, Rulla M; Tapper, William J; Taylor, Jack A; Terry, Mary Beth; Teulé, Alex; Thull, Darcy L; Tischkowitz, Marc; Toland, Amanda E; Torres, Diana; Trainer, Alison H; Truong, Thérèse; Tung, Nadine; Vachon, Celine M; Vega, Ana; Vijai, Joseph; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R; Weitzel, Jeffrey N; Wendt, Camilla; Wolk, Alicja; Yadav, Siddhartha; Yang, Xiaohong R; Yannoukakos, Drakoulis; Zheng, Wei; Ziogas, Argyrios; Zorn, Kristin K; Park, Sue K; Thomassen, Mads; Offit, Kenneth; Schmutzler, Rita K; Couch, Fergus J; Simard, Jacques; Chenevix-Trench, Georgia; Easton, Douglas F; Andrieu, Nadine; Antoniou, Antonis C