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

46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome

46,XY/46,XY嵌合体:产前表现和产后结局

Baqri, Wafa; Goh, Elaine S; Berndl, Anne; Seesahai, Judy; Skidmore, Martin; Vaags, Andrea K; Kekis, Mariana

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository

数据共享以提高实验室间变异解读的一致性:来自加拿大开放遗传学库的结果

Mighton, Chloe; Smith, Amanda C; Mayers, Justin; Tomaszewski, Robert; Taylor, Sherryl; Hume, Stacey; Agatep, Ron; Spriggs, Elizabeth; Feilotter, Harriet E; Semenuk, Laura; Wong, Henry; Lazo de la Vega, Lorena; Marshall, Christian R; Axford, Michelle M; Silver, Talia; Charames, George S; Di Gioacchino, Vanessa; Watkins, Nicholas; Foulkes, William D; Clavier, Marcos; Hamel, Nancy; Chong, George; Lamont, Ryan E; Parboosingh, Jillian; Karsan, Aly; Bosdet, Ian; Young, Sean S; Tucker, Tracy; Akbari, Mohammad Reza; Speevak, Marsha D; Vaags, Andrea K; Lebo, Matthew S; Lerner-Ellis, Jordan

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

卵巢癌BRCA1/2肿瘤检测实践指南

Grafodatskaya, Daria; O'Rielly, Darren D; Bedard, Karine; Butcher, Darci T; Howlett, Christopher J; Lytwyn, Alice; McCready, Elizabeth; Parboosingh, Jillian; Spriggs, Elizabeth L; Vaags, Andrea K; Stockley, Tracy L

A Pan-Canadian Validation Study for the Detection of EGFR T790M Mutation Using Circulating Tumor DNA From Peripheral Blood

一项利用外周血循环肿瘤DNA检测EGFR T790M突变的泛加拿大验证研究

Selvarajah, Shamini; Plante, Sophie; Speevak, Marsha; Vaags, Andrea; Hamelinck, Darren; Butcher, Martin; McCready, Elizabeth; Grafodatskaya, Daria; Blais, Normand; Tran-Thanh, Danh; Weng, Xiaoduan; Nassabein, Rami; Greer, Wenda; Walton, Ryan N; Lo, Bryan; Demetrick, Doug; Santos, Stephanie; Sadikovic, Bekim; Zhang, Xiao; Zhang, Tong; Spence, Tara; Stockley, Tracy; Feilotter, Harriet; Joubert, Philippe

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

CHD2单倍体不足与发育迟缓、智力障碍、癫痫和神经行为问题有关。

Chénier, Sébastien; Yoon, Grace; Argiropoulos, Bob; Lauzon, Julie; Laframboise, Rachel; Ahn, Joo Wook; Ogilvie, Caroline Mackie; Lionel, Anath C; Marshall, Christian R; Vaags, Andrea K; Hashemi, Bita; Boisvert, Karine; Mathonnet, Géraldine; Tihy, Frédérique; So, Joyce; Scherer, Stephen W; Lemyre, Emmanuelle; Stavropoulos, Dimitri J

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

9q33.1 处的 ASTM2/TRIM32 基因座的破坏是男性患自闭症谱系障碍、注意力缺陷多动障碍和其他神经发育表型的风险因素。

Lionel, Anath C; Tammimies, Kristiina; Vaags, Andrea K; Rosenfeld, Jill A; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K; Pillalamarri, Vamsee K; Carter, Melissa T; Gazzellone, Matthew J; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C; Leather, Susan; Trounce, John; Melanie Bedford, H; Hatchwell, Eli; Eis, Peggy S; Yuen, Ryan K C; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T; Nikkel, Sarah M; Tomiak, Eva M; Fernandez, Bridget A; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D; Schachar, Russell J; Roberts, Wendy; Paterson, Andrew D; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Brian Lowry, R; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; Macdonald, Jeffrey R; Howe, Jennifer L; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S; Wilks, Timothy M; Sorensen, Mark J; Bader, Patricia I; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M; Monica, Matteo Della; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C; Talkowski, Michael E; Stavropoulos, Dimitri J; Marshall, Christian R; Scherer, Stephen W

Ectopic TLX1 expression accelerates malignancies in mice deficient in DNA-PK

异位 TLX1 表达加速 DNA-PK 缺陷小鼠的恶性肿瘤

Konstantin Krutikov, Yanzhen Zheng, Alden Chesney, Xiaoyong Huang, Andrea K Vaags, Valentina Evdokimova, Margaret R Hough, Edwin Chen

Rare deletions at the neurexin 3 locus in autism spectrum disorder

自闭症谱系障碍中神经连接蛋白3基因座的罕见缺失

Andrea K Vaags ,Anath C Lionel, Daisuke Sato, McKinsey Goodenberger, Quinn P Stein, Sarah Curran, Caroline Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman, Christina Chrysler, Ann Thompson, Carolyn Russell, Aparna Prasad, Susan Walker, Dalila Pinto, Christian R Marshall, Dimitri J Stavropoulos, Lonnie Zwaigenbaum, Bridget A Fernandez, Eric Fombonne, Patrick F Bolton, David A Collier, Jennelle C Hodge, Wendy Roberts, Peter Szatmari, Stephen W Scherer

Long-term tracking of bone marrow progenitor cells following intracoronary injection post-myocardial infarction in swine using MRI

使用 MRI 对猪心肌梗死后冠状动脉内注射后的骨髓祖细胞进行长期追踪

John J Graham, Warren D Foltz, Andrea K Vaags, Michael R Ward, Yuesong Yang, Kim A Connelly, Ram Vijayaraghavan, Jay S Detsky, Margaret R Hough, Duncan J Stewart, Graham A Wright, Alexander J Dick