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

Using the ancestral recombination graph to study the history of rare variants in founder populations

利用祖先重组图研究创始人群体中罕见变异的历史

Mejia-Garcia, Alejandro; Diaz-Papkovich, Alex; Sillon, Guillaume; D'Agostino, Daniela; Chong, Anne-Laure; Chong, George; Lo, Ken Sin; Baret, Laurence; Hamel, Nancy; Chapdelaine, Vincent; Foulkes, William D; Taliun, Daniel; Shapiro, Adam J; Lettre, Guillaume; Gravel, Simon

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec

ODAD4相关原发性纤毛运动障碍:魁北克省五例病例及一个创始变异体的报告

Bourassa, Marie-Hélène; Sillon, Guillaume; Ding, Shuizi; Chioccioli, Maurizio; Lek, Monkol; Ma, Kaiyue; Mejia-Garcia, Alejandro; Gravel, Simon; Vinh, Donald C; Knowles, Michael R; Leigh, Margaret W; Davis, Stephanie D; Ferkol, Thomas; Olivier, Kenneth N; Schecterman, Elizabeth N; Yin, Weining; Sears, Patrick R; Gentzsch, Martina; Boyles, Susan E; Bennett, William D; Zeman, Kirby L; Ostrowski, Lawrence E; Zariwala, Maimoona A; Shapiro, Adam J

Process for Rapid Co-development of a Decision Aid Prototype for Population-wide Cancer Screening

用于全人群癌症筛查的决策辅助原型快速共同开发流程

Assan, Odilon Quentin; Uwizeye, Claude Bernard; Zomahoun, Hervé Tchala Vignon; Nduwimana, Oscar; Dubuisson, Wilhelm; Sillon, Guillaume; Bergeron, Danielle; Groulx, Stéphane; Deck, Wilber; Giguère, Anik; Légaré, France

HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians

HYDIN变异是法裔加拿大人原发性纤毛运动障碍的常见病因

Shapiro, Adam J; Sillon, Guillaume; D'Agostino, Daniela; Baret, Laurence; López-Giráldez, Francesc; Mane, Shrikant; Leigh, Margaret W; Davis, Stephanie D; Knowles, Michael R; Zariwala, Maimoona A

A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

一种新型复发性COL5A1基因变异与一种伴有动脉夹层和纤维肌性发育不良的发育不良相关动脉疾病有关

Richer, Julie; Hill, Hannah L; Wang, Yu; Yang, Min-Lee; Hunker, Kristina L; Lane, Jamie; Blackburn, Susan; Coleman, Dawn M; Eliason, Jonathan; Sillon, Guillaume; D'Agostino, Maria-Daniela; Jetty, Prasad; Mongeon, François-Pierre; Laberge, Anne-Marie; Ryan, Stephen E; Fendrikova-Mahlay, Natalia; Coutinho, Thais; Mathis, Michael R; Zawistowski, Matthew; Hazen, Stanley L; Katz, Alexander E; Gornik, Heather L; Brummett, Chad M; Abecasis, Goncalo; Bergin, Ingrid L; Stanley, James C; Li, Jun Z; Ganesh, Santhi K

Clinical Yield of Routine Use of Molecular Testing for Adult Outpatients with Diarrhea

分子检测常规应用于成人腹泻门诊患者的临床价值

Liang, Kaicheng; Wang, Zhao; Ahsen, Osman O; Lee, Hsiang-Chieh; Potsaid, Benjamin M; Jayaraman, Vijaysekhar; Cable, Alex; Mashimo, Hiroshi; Li, Xingde; Fujimoto, James G; Jin, Harry; Chuang, Tzu-yi; Rasheed, Haroon; Powers, Rachel E; Marcus, Joseph; Ford, Mary B; Assan, Odilon Quentin; Uwizeye, Claude Bernard; Nduwimana, Oscar; Dubuisson, Wilhelm; Sillon, Guillaume; Legare, France; Mei, Tiffany; Campion, Maureen; Vazquez, Gabriela Andujar; Foong, Kap Sum; Doron, Shira; Pereira, Victoria Quadros; Panke, Carine; Eifler, Leticia; Tovo, Cristiane; Moreira, Thaís; Saba, Nicholas; Chirch, Lisa; Banks, Sarah H; Wu, Geroge; Einstein, Michael; Shafiq, Muhammad; Alturkmani, Hani; Zafar, Yousaf; Mittal, Vishal; Lodhi, Hafsa; Brewer, Joseph; Clark, Stephen; Sidlak, Michael; Mathers, Amy; Poulter, Melinda; Platts-Mills, James

Researchers' perceptions of the ethical implications of pharmacogenomics research with children

研究人员对涉及儿童的药物基因组学研究的伦理影响的看法

Avard, D; Silverstein, T; Sillon, G; Joly, Y

Calpain 3 is activated through autolysis within the active site and lyses sarcomeric and sarcolemmal components

钙蛋白酶3通过活性位点内的自溶而被激活,并裂解肌节和肌膜成分。

Taveau, Mathieu; Bourg, Nathalie; Sillon, Guillaume; Roudaut, Carinne; Bartoli, Marc; Richard, Isabelle