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

The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services

“遗传导航器”的开发和可用性:面向成人和儿童临床遗传服务的数字解决方案

Saeedi, Saumeh; Hirjikaka, Daena; Clausen, Marc; Luca, Stephanie; Reble, Emma; Kodida, Rita; Assamad, Daniel; Chad, Lauren; Costain, Gregory; Faghfoury, Hanna; Silver, Josh; Shastri-Estrada, Serena; Smith, Maureen; Hayeems, Robin Z; Bombard, Yvonne

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations

遗传导航器:一项混合方法随机对照试验方案,旨在评估一个用于在加拿大儿科和成人人群中提供基因组服务的数字平台

D'Amours, Guylaine; Clausen, Marc; Luca, Stephanie; Reble, Emma; Kodida, Rita; Assamad, Daniel; Bernier, Francois; Chad, Lauren; Costain, Gregory; Dhalla, Irfan; Faghfoury, Hanna; Friedman, Jan M; Hewson, Stacy; Jamieson, Trevor; Silver, Josh; Shuman, Cheryl; Osmond, Matthew; Carroll, June C; Jobling, Rebekah; Laberge, Anne-Marie; Aronson, Melyssa; Liston, Eriskay; Lerner-Ellis, Jordan; Marshall, Christian; Brudno, Michael; Pham, Quynh; Rudzicz, Frank; Cohn, Ronald; Mamdani, Muhammad; Smith, Maureen; Shastri-Estrada, Serena; Seto, Emily; Thorpe, Kevin; Ungar, Wendy; Hayeems, Robin Z; Bombard, Yvonne

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

遗传学顾问:开发并进行一款新型患者数字健康应用程序的可用性测试,以支持临床基因组检测

Clausen, Marc; Krishnapillai, Suvetha; Hirjikaka, Daena; Kodida, Rita; Shickh, Salma; Reble, Emma; Mighton, Chloe; Sam, Jordan; Adi-Wauran, Ella; Baxter, Nancy N; Feldman, Geoff; Glogowski, Emily; Lerner-Ellis, Jordan; Scheer, Adena; Shastri-Estrada, Serena; Shuman, Cheryl; Armel, Susan Randall; Aronson, Melyssa; Graham, Tracy; Panchal, Seema; Thorpe, Kevin E; Carroll, June C; Eisen, Andrea; Elser, Christine; Kim, Raymond H; Faghfoury, Hanna; Schrader, Kasmintan A; Seto, Emily; Bombard, Yvonne

Ensuring timely genetic diagnosis in adults

确保成人及时进行基因诊断

Faghfoury, Hanna; Guerin, Andrea

Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery

寻找最佳平衡点:一项探索患者对基因服务中聊天机器人接受度的定性研究

Luca, Stephanie; Clausen, Marc; Shaw, Angela; Lee, Whiwon; Krishnapillai, Suvetha; Adi-Wauran, Ella; Faghfoury, Hanna; Costain, Gregory; Jobling, Rebekah; Aronson, Melyssa; Liston, Eriskay; Silver, Josh; Shuman, Cheryl; Chad, Lauren; Hayeems, Robin Z; Bombard, Yvonne

Genome screening, reporting, and genetic counseling for healthy populations

针对健康人群的基因组筛查、报告和遗传咨询

Casalino, Selina; Frangione, Erika; Chung, Monica; MacDonald, Georgia; Chowdhary, Sunakshi; Mighton, Chloe; Faghfoury, Hanna; Bombard, Yvonne; Strug, Lisa; Pugh, Trevor J; Simpson, Jared; Arnoldo, Saranya; Aujla, Navneet; Bearss, Erin; Binnie, Alexandra; Borgundvaag, Bjug; Chertkow, Howard; Clausen, Marc; Dagher, Marc; Devine, Luke; Di Iorio, David; Friedman, Steven Marc; Fung, Chun Yiu Jordan; Gingras, Anne-Claude; Goneau, Lee W; Kaushik, Deepanjali; Khan, Zeeshan; Lapadula, Elisa; Lu, Tiffany; Mazzulli, Tony; McGeer, Allison; McLeod, Shelley L; Morgan, Gregory; Richardson, David; Singh, Harpreet; Stern, Seth; Taher, Ahmed; Wong, Iris; Zarei, Natasha; Greenfeld, Elena; Hao, Limin; Lebo, Matthew; Lane, William; Noor, Abdul; Taher, Jennifer; Lerner-Ellis, Jordan

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

遗传咨询师:一项评估用于遗传服务提供的数字平台的混合方法随机对照试验方案

Shickh, Salma; Hirjikaka, Daena; Clausen, Marc; Kodida, Rita; Mighton, Chloe; Reble, Emma; Sam, Jordan; Panchal, Seema; Aronson, Melyssa; Graham, Tracy; Armel, Susan Randall; Glogowski, Emily; Elser, Christine; Eisen, Andrea; Carroll, June C; Shuman, Cheryl; Seto, Emily; Baxter, Nancy N; Scheer, Adena; Shastri-Estrada, Serena; Feldman, Geoff; Thorpe, Kevin E; Schrader, Kasmintan A; Lerner-Ellis, Jordan; Kim, Raymond H; Faghfoury, Hanna; Bombard, Yvonne

Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study

健康人群基因组报告——来自 GENCOV COVID-19 研究的基因组筛查流程

Frangione, Erika; Chung, Monica; Casalino, Selina; MacDonald, Georgia; Chowdhary, Sunakshi; Mighton, Chloe; Faghfoury, Hanna; Bombard, Yvonne; Strug, Lisa; Pugh, Trevor; Simpson, Jared; Hao, Limin; Lebo, Matthew; Lane, William J; Taher, Jennifer; Lerner-Ellis, Jordan

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

对未确诊疾病的成年人进行外显子组和基因组测序:一项前瞻性队列研究

Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arnon; Horsburgh, Sheri; Morar, Oana; Murphy, Jillian; Nevay, Dayna-Lynn; Szybowska, Marta; Aronson, Melyssa; Panchal, Seema; Godoy, Ruth; Holter, Spring; Randall Armel, Susan; Semotiuk, Kara; Elser, Christine; Kim, Raymond H; Chitayat, David; So, Joyce; Faghfoury, Hanna; Silver, Josh; Morel, Chantal F; Lerner-Ellis, Jordan