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

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance

发现另一种深内含子剪接变异体,促使人们对SPG7的遗传方式进行关键性评估。

Gillesse, Emma H; Wan, Miranda; Ashtiani, Setareh; Suchowersky, Oksana; Parboosingh, Jillian S; Bernier, Francois P; Lamont, Ryan E; Innes, A Micheil; Au, P Y Billie

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

核糖核酸酶抑制剂 (RNH1) 是一种炎症小体调节因子,其双等位基因变异与一种独特的急性坏死性脑病亚型相关。

Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G; Sondheimer, Neal; Markert, M Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V; Esser, Michael J; Woodward, Kristine E; Ping-Yee Au, Billie; Parboosingh, Jillian S; Lamont, Ryan E; Bernier, Francois P; Wright, Nicola A M; Benseler, Susa M; Parsons, Simon J; El-Dairi, Mays; Smith, Edward C; Valdez, Purnima; Tennison, Michael; Innes, A Micheil; Davis, Erica E

Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project

阿尔伯塔省脊髓性肌萎缩症新生儿筛查——第一年试点项目结果

Niri, Farshad; Nicholls, Jessie; Baptista Wyatt, Kelly; Walker, Christine; Price, Tiffany; Kelln, Rhonda; Hume, Stacey; Parboosingh, Jillian; Lilley, Margaret; Kolski, Hanna; Ridsdale, Ross; Muranyi, Andrew; Mah, Jean K; Bulman, Dennis E

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

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

Hnrnpul1 控制转录、剪接并调节体内骨骼和肢体的发育

Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont, Jillian S Parboosingh, A Micheil Innes, François P Bernier, Sarah J Childs

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

从头突变的TRIM8基因变异会损害其蛋白在核内的定位,并导致发育迟缓、癫痫和局灶节段性肾小球硬化症。

Weng, Patricia L; Majmundar, Amar J; Khan, Kamal; Lim, Tze Y; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F; Aggarwal, Vimla S; Bier, Louise E; Heinzen, Erin L; Onuchic-Whitford, Ana C; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B; Altmüller, Janine; Benz, Marcus R; Yano, Shoji; Mikati, Mohamad A; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S; Martinez-Agosto, Julian A; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda V; Parboosingh, Jillian S; Innes, A Micheil; Bierzynska, Agnieszka; Koziell, Ania B; Muorah, Mordi; Saleem, Moin A; Hoefele, Julia; Riedhammer, Korbinian M; Gharavi, Ali G; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G; O'Donnell-Luria, Anne; Rehm, Heidi L; Mane, Shrikant; D'Agati, Vivette D; Pollak, Martin R; Ghiggeri, Gian Marco; Lifton, Richard P; Goldstein, David B; Davis, Erica E; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

阿尔伯塔省新生儿镰状细胞病筛查方法:分子检测的优势

Zhou, Janet R; Ridsdale, Ross; MacNeil, Lauren; Lilley, Margaret; Hoang, Stephanie; Christian, Susan; Blumenschein, Pamela; Wolan, Vanessa; Bruce, Aisha; Singh, Gurpreet; Wright, Nicola; Parboosingh, Jillian S; Lamont, Ryan E; Sosova, Iveta

De novo variants in MPP5 cause global developmental delay and behavioral changes

MPP5基因的新生突变会导致全面发育迟缓和行为改变。

Sterling, Noelle; Duncan, Anna R; Park, Raehee; Koolen, David A; Shi, Jiahai; Cho, Seo-Hee; Benke, Paul J; Grant, Patricia E; Genetti, Casie A; VanNoy, Grace E; Juusola, Jane; McWalter, Kirsty; Parboosingh, Jillian S; Lamont, Ryan E; Bernier, Francois P; Smith, Christopher; Harris, David J; Stegmann, Alexander P A; Innes, A Micheil; Kim, Seonhee; Agrawal, Pankaj B

Genetic Risk, Vascular Function, and Subjective Cognitive Complaints Predict Objective Cognitive Function in Healthy Older Adults: Results From the Brain in Motion Study

遗传风险、血管功能和主观认知障碍可预测健康老年人的客观认知功能:来自“大脑运动研究”的结果

Tyndall, Amanda V; Longman, R Stewart; Sajobi, Tolulope T; Parboosingh, Jillian S; Drogos, Lauren L; Davenport, Margie H; Eskes, Gail A; Hogan, David B; Hill, Michael D; Poulin, Marc J