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

Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board

将基因组研究成果转化为临床应用的咨询服务实施:来自多伦多儿童医院基因组委员会的经验教训

Pan, Amy Y; Pulsifer, Kenzie; Axford, Michelle M; Dolman, Lena; Gallinger, Bailey; Liston, Eriskay; Stephenson, Elizabeth; Szuto, Anna; Zahavich, Laura; Costain, Gregory

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

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

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

SCIP:用于高效临床解读全基因组测序检测到的拷贝数变异的软件

Ding, Qiliang; Somerville, Cherith; Manshaei, Roozbeh; Trost, Brett; Reuter, Miriam S; Kalbfleisch, Kelsey; Stanley, Kaitlin; Okello, John B A; Hosseini, S Mohsen; Liston, Eriskay; Curtis, Meredith; Zarrei, Mehdi; Higginbotham, Edward J; Chan, Ada J S; Engchuan, Worrawat; Thiruvahindrapuram, Bhooma; Scherer, Stephen W; Kim, Raymond H; Jobling, Rebekah K

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting

儿科三级医疗机构药物基因组学检测实施情况评估

Cohn, Iris; Manshaei, Roozbeh; Liston, Eriskay; Okello, John B A; Khan, Reem; Curtis, Meredith R; Krupski, Abby J; Jobling, Rebekah K; Kalbfleisch, Kelsey; Paton, Tara A; Reuter, Miriam S; Hayeems, Robin Z; Verstegen, Ruud H J; Goldman, Aaron; Kim, Raymond H; Ito, Shinya

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M L; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L; Brais, Bernard; Sylvain, Michel; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease

心脏基因组诊所:在儿科心脏病中应用基因组测序

Reuter, Miriam S; Chaturvedi, Rajiv R; Liston, Eriskay; Manshaei, Roozbeh; Aul, Ritu B; Bowdin, Sarah; Cohn, Iris; Curtis, Meredith; Dhir, Priya; Hayeems, Robin Z; Hosseini, S Mohsen; Khan, Reem; Ly, Linh G; Marshall, Christian R; Mertens, Luc; Okello, John B A; Pereira, Sergio L; Raajkumar, Akshaya; Seed, Mike; Thiruvahindrapuram, Bhooma; Scherer, Stephen W; Kim, Raymond H; Jobling, Rebekah K

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

通过对 231 个基因组序列进行超罕见变异负荷分析,揭示了与法洛四联症相关的基因和通路

Manshaei, Roozbeh; Merico, Daniele; Reuter, Miriam S; Engchuan, Worrawat; Mojarad, Bahareh A; Chaturvedi, Rajiv; Heung, Tracy; Pellecchia, Giovanna; Zarrei, Mehdi; Nalpathamkalam, Thomas; Khan, Reem; Okello, John B A; Liston, Eriskay; Curtis, Meredith; Yuen, Ryan K C; Marshall, Christian R; Jobling, Rebekah K; Oechslin, Erwin; Wald, Rachel M; Silversides, Candice K; Scherer, Stephen W; Kim, Raymond H; Bassett, Anne S

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

血管内皮生长因子相关信号基因的单倍体功能不全与法洛四联症相关

Reuter, Miriam S; Jobling, Rebekah; Chaturvedi, Rajiv R; Manshaei, Roozbeh; Costain, Gregory; Heung, Tracy; Curtis, Meredith; Hosseini, S Mohsen; Liston, Eriskay; Lowther, Chelsea; Oechslin, Erwin; Sticht, Heinrich; Thiruvahindrapuram, Bhooma; Mil, Spencer van; Wald, Rachel M; Walker, Susan; Marshall, Christian R; Silversides, Candice K; Scherer, Stephen W; Kim, Raymond H; Bassett, Anne S

Return of genetic and genomic research findings: experience of a pediatric biorepository

基因和基因组研究成果的返还:儿科生物样本库的经验

Papaz, Tanya; Liston, Eriskay; Zahavich, Laura; Stavropoulos, Dimitri J; Jobling, Rebekah K; Kim, Raymond H; Reuter, Miriam; Miron, Anastasia; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F; Altamirano-Diaz, Luis; Lougheed, Jane; Yao, Roderick; Akinrinade, Oyediran; Breckpot, Jeroen; Mital, Seema