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

Prevalence of NTRK Fusions in Canadian Solid Tumour Cancer Patients

加拿大实体瘤癌症患者中NTRK融合的患病率

Silvertown, Joshua D; Lisle, Connie; Semenuk, Laura; Knapp, Colleen; Jaynes, Jillann; Berg, Doreen; Kaul, Nabodita; Lachapelle, Josianne; Richardson, Leslie; Speevak, Marsha; Sarras, Haya; Berman, David M; Carter, Ronald; Feilotter, Harriet; Feltis, Timothy

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

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

A large data resource of genomic copy number variation across neurodevelopmental disorders

涵盖神经发育障碍基因组拷贝数变异的大型数据资源

Zarrei, Mehdi; Burton, Christie L; Engchuan, Worrawat; Young, Edwin J; Higginbotham, Edward J; MacDonald, Jeffrey R; Trost, Brett; Chan, Ada J S; Walker, Susan; Lamoureux, Sylvia; Heung, Tracy; Mojarad, Bahareh A; Kellam, Barbara; Paton, Tara; Faheem, Muhammad; Miron, Karin; Lu, Chao; Wang, Ting; Samler, Kozue; Wang, Xiaolin; Costain, Gregory; Hoang, Ny; Pellecchia, Giovanna; Wei, John; Patel, Rohan V; Thiruvahindrapuram, Bhooma; Roifman, Maian; Merico, Daniele; Goodale, Tara; Drmic, Irene; Speevak, Marsha; Howe, Jennifer L; Yuen, Ryan K C; Buchanan, Janet A; Vorstman, Jacob A S; Marshall, Christian R; Wintle, Richard F; Rosenberg, David R; Hanna, Gregory L; Woodbury-Smith, Marc; Cytrynbaum, Cheryl; Zwaigenbaum, Lonnie; Elsabbagh, Mayada; Flanagan, Janine; Fernandez, Bridget A; Carter, Melissa T; Szatmari, Peter; Roberts, Wendy; Lerch, Jason; Liu, Xudong; Nicolson, Rob; Georgiades, Stelios; Weksberg, Rosanna; Arnold, Paul D; Bassett, Anne S; Crosbie, Jennifer; Schachar, Russell; Stavropoulos, Dimitri J; Anagnostou, Evdokia; Scherer, Stephen W

CCMG practice guideline: laboratory guidelines for next-generation sequencing

CCMG实践指南:下一代测序实验室指南

Hume, Stacey; Nelson, Tanya N; Speevak, Marsha; McCready, Elizabeth; Agatep, Ron; Feilotter, Harriet; Parboosingh, Jillian; Stavropoulos, Dimitri J; Taylor, Sherryl; Stockley, Tracy L

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome

OTUD7A 调节 15q13.3 微缺失综合征中的神经发育表型

Mohammed Uddin, Brianna K Unda, Vickie Kwan, Nicholas T Holzapfel, Sean H White, Leon Chalil, Marc Woodbury-Smith, Karen S Ho, Erin Harward, Nadeem Murtaza, Biren Dave, Giovanna Pellecchia, Lia D'Abate, Thomas Nalpathamkalam, Sylvia Lamoureux, John Wei, Marsha Speevak, James Stavropoulos, Kristin J

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

智商对精神分裂症成年患者社区样本中染色体微阵列诊断率的影响

Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Waserman, Jack; Boyd, Kerry; Noor, Abdul; Speevak, Marsha; Stavropoulos, Dimitri J; Wei, John; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Bassett, Anne S

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

对来自 19,263 例临床微阵列病例的 NRXN1 缺失进行分子特征分析,鉴定出对神经发育疾病表达至关重要的外显子。

Lowther, Chelsea; Speevak, Marsha; Armour, Christine M; Goh, Elaine S; Graham, Gail E; Li, Chumei; Zeesman, Susan; Nowaczyk, Malgorzata J M; Schultz, Lee-Anne; Morra, Antonella; Nicolson, Rob; Bikangaga, Peter; Samdup, Dawa; Zaazou, Mostafa; Boyd, Kerry; Jung, Jack H; Siu, Victoria; Rajguru, Manjulata; Goobie, Sharan; Tarnopolsky, Mark A; Prasad, Chitra; Dick, Paul T; Hussain, Asmaa S; Walinga, Margreet; Reijenga, Renske G; Gazzellone, Matthew; Lionel, Anath C; Marshall, Christian R; Scherer, Stephen W; Stavropoulos, Dimitri J; McCready, Elizabeth; Bassett, Anne S

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

拷贝数变异对发育迟缓相关基因的影响

Uddin, Mohammed; Pellecchia, Giovanna; Thiruvahindrapuram, Bhooma; D'Abate, Lia; Merico, Daniele; Chan, Ada; Zarrei, Mehdi; Tammimies, Kristiina; Walker, Susan; Gazzellone, Matthew J; Nalpathamkalam, Thomas; Yuen, Ryan K C; Devriendt, Koenraad; Mathonnet, Géraldine; Lemyre, Emmanuelle; Nizard, Sonia; Shago, Mary; Joseph-George, Ann M; Noor, Abdul; Carter, Melissa T; Yoon, Grace; Kannu, Peter; Tihy, Frédérique; Thorland, Erik C; Marshall, Christian R; Buchanan, Janet A; Speevak, Marsha; Stavropoulos, Dimitri J; Scherer, Stephen W

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