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

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

基于成像流式细胞术的细胞筛查阐明了具有意义未明变异的个体的病理生理学

Muffels, Irena Josephina Johanna; Waterham, Hans R; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J; Van der Vinne, Celine; Roifman, Chaim M; Gassen, Koen L I; Rehmann, Holger; Van Haaften-Visser, Desiree Y; Nieuwenhuis, Edward S S; Jackson, Stephen P; Fuchs, Sabine A; Wijk, Femke; van Hasselt, Peter

Cardiac function evaluation in healthy volunteers and patients with implantable cardioverter-defibrillators using high-bandwidth spoiled gradient-echo cine

采用高带宽扰相梯度回波电影成像技术对健康志愿者和植入式心脏复律除颤器患者的心脏功能进行评估。

Sheagren, Calder D; Shadafny, Naseem; Escartin, Terenz; Terricabras, Maria; Cheung, Christopher C; Roifman, Idan; Wright, Graham A

Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing

使用全基因组测序专门检测前 T 细胞受体 α 免疫缺陷

Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W Scherer, Chaim M Roifman

Impact of Zero Coronary Artery Calcium Scoring on Downstream Cardiac Testing and Cardiac Outcomes Compared With No Testing

与未进行检测相比,冠状动脉钙化评分为零对后续心脏检查和心脏结局的影响

Lin, Ethan; Alonzo, Rea; Fang, Jiming; Chu, Anna; Elhadad, Levi; Sud, Maneesh; Wijeysundera, Harindra C; Basque, Shalane; Hanneman, Kate; Nguyen, Elsie; Farkouh, Michael E; Udell, Jacob A; Roifman, Idan

Sex Differences in Cardiovascular Health Status and Long-Term Outcomes in a Primary Prevention Cohort

一级预防队列中心血管健康状况和长期结局的性别差异

Sud, Maneesh; Chaudhry, Areeba; Qui, Feng; Haldenby, Olivia; Godoy, Lucas C; Austin, Peter C; Roifman, Idan; Manuel, Douglas; Eurich, Dean T; Wijeysundera, Harindra C; Madan, Mina; Huynh, Thao; Ko, Dennis T

Implications of five different risk models in primary prevention guidelines

五种不同风险模型对一级预防指南的影响

Sud, Maneesh; Sivaswamy, Atul; Austin, Peter C; Abdel-Qadir, Husam; Anderson, Todd J; Naimark, David M J; Lee, Douglas S; Roifman, Idan; Thanassoulis, George; Tu, Karen; Wijeysundera, Harindra C; Ko, Dennis T

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Validation of the European SCORE2 models in a Canadian primary care cohort

在加拿大基层医疗人群中验证欧洲 SCORE2 模型

Sud, Maneesh; Sivaswamy, Atul; Austin, Peter C; Abdel-Qadir, Husam; Anderson, Todd J; Khera, Rohan; Naimark, David M J; Lee, Douglas S; Roifman, Idan; Thanassoulis, George; Tu, Karen; Wijeysundera, Harindra C; Ko, Dennis T

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

扩展 NOTCH1 变异的表型谱:先天性心脏病家族的临床表现

Stanley, Kaitlin J; Kalbfleisch, Kelsey J; Moran, Olivia M; Chaturvedi, Rajiv R; Roifman, Maian; Chen, Xin; Manshaei, Roozbeh; Martin, Nicole; McDermott, Simina; McNiven, Vanda; Myles-Reid, Diane; Nield, Lynne E; Reuter, Miriam S; Schwartz, Marci L B; Shannon, Patrick; Silver, Rachel; Somerville, Cherith; Teitelbaum, Ronni; Zahavich, Laura; Bassett, Anne S; Kim, Raymond H; Mital, Seema; Chitayat, David; Jobling, Rebekah K

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023

一项独特的新生儿重症联合免疫缺陷筛查综合模式——安大略省单中心2013-2023年经验总结

Al Ghamdi, Abdulrahman; Pachul, Jessica Willett; Al Shaqaq, Azhar; Fraser, Meghan; Watts-Dickens, Abby; Yang, Nicole; Vong, Linda; Kim, Vy H D; Siu, Victoria Mok; Pham-Huy, Anne; Brager, Rae; Reid, Brenda; Roifman, Chaim M