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

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study

了解基因组学次要发现对临床护理和患者体验的影响:一项前瞻性观察研究方案

Assamad, Daniel; Hansen, Abigail; Fooks, Katharine; Luca, Stephanie; Venkataramanan, Viji; Hsue, Erin; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B; Beausejour Ladouceur, Virginie; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P; Marshall, Christian R; Mendoza-Londono, Roberto; Morel, Chantal F; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitri J; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J; Boycott, Kym M; Ungar, Wendy J; Hayeems, Robin Z

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Honest yet unacceptable research practices: when research becomes a health risk

诚实却不可接受的研究实践:当研究变成健康风险

Clark, Alexander M; Sousa, Bailey J; Ski, Chantal F; Thompson, David R

Opportunistic genomic screening has clinical utility: An interventional cohort study

机会性基因组筛查具有临床应用价值:一项干预性队列研究

Mighton, Chloe; Kodida, Rita; Shickh, Salma; Clausen, Marc; Reble, Emma; Sam, Jordan; Grewal, Sonya; Hirjikaka, Daena; Panchal, Seema; Piccinin, Carolyn; Aronson, Melyssa; Ward, Thomas; Armel, Susan Randall; Hofstedter, Renee; Graham, Tracy; Mancuso, Talia; Forster, Nicole; Capo-Chichi, José-Mario; Greenfeld, Elena; Noor, Abdul; Cohn, Iris; Morel, Chantal F; Elser, Christine; Eisen, Andrea; Carroll, June C; Glogowksi, Emily; Schrader, Kasmintan A; Chan, Kelvin K W; Thorpe, Kevin E; Lerner-Ellis, Jordan; Kim, Raymond H; Bombard, Yvonne

Health and social service provider perspectives on challenges, approaches, and recommendations for treating long COVID: a qualitative study of Canadian provider experiences

加拿大卫生和社会服务提供者对治疗新冠后遗症的挑战、方法和建议的看法:一项关于加拿大服务提供者经验的定性研究

Nguyen, Anh T P; Ski, Chantal F; Thompson, David R; Abbey, Susan E; Kloiber, Stefan; Sheikhan, Natasha Yasmin; Selby, Peter; Shields, Roslyn; Rossell, Susan L; Strudwick, Gillian; Castle, David; Hawke, Lisa D

Psychological interventions for depression and anxiety in patients with coronary heart disease, heart failure or atrial fibrillation

对患有冠心病、心力衰竭或房颤的患者进行抑郁和焦虑的心理干预

Ski, Chantal F; Taylor, Rod S; McGuigan, Karen; Long, Linda; Lambert, Jeffrey D; Richards, Suzanne H; Thompson, David R

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Systematic review of interventions for mental health, cognition and psychological well-being in long COVID

对新冠长期症状患者的心理健康、认知和心理健康干预措施进行系统性综述

Hawke, Lisa D; Nguyen, Anh T P; Wang, Wei; Brown, Eric E; Xu, Dandan; Deuville, Susan; Goulding, Suzie; Ski, Chantal F; Rossell, Susan L; Thompson, David R; Rodak, Terri; Strudwick, Gillian; Castle, David

How do patients with head and neck cancer and low skeletal muscle mass experience cisplatin-based chemoradiotherapy? A qualitative study

患有头颈癌且骨骼肌质量低的患者如何体验以顺铂为基础的放化疗?一项定性研究

Schaeffers, Anouk W M A; van Beers, Maartje A; Devriese, Lot A; Klomp, F W José; Westerink-van den Brink, Chantal F M; Smid, Ernst J; de Bree, Remco; Speksnijder, Caroline M

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

通过大规模平行测序技术在早发性肾衰竭患者中鉴定出具有非典型表型的法布里病

de Haan, Amber; Morel, Chantal F; Eijgelsheim, Mark; de Jong, Margriet F C; Broekroelofs, Jan; Vogt, Liffert; Knoers, Nine V A M; de Borst, Martin H