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

Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study

将儿科专科医生纳入基因组医学服务:一项定性研究

Mackley, Michael P; Shickh, Salma; Lee, Whiwon; Hansen, Abigail; Fooks, Katharine; Dolman, Lena; Peltekova, Iskra; Hartley, Taila; Hayeems, Robin Z

One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking

单方匹配平台(OSMP):促进罕见病患者匹配的工具

Osmond, Matthew; Price, E Magda; Buske, Orion J; Frew, Mackenzie; Couse, Madeline; Hartley, Taila; Klamann, Conor; Le, Hannah G B H; Xu, Jenny; So, Delvin; Jain, Anjali; Lu, Kevin; Mo, Kevin; Wyllie, Hannah; Wall, Erika; Driver, Hannah G; Cheung, Warren A; Cohen, Ana S A; Farrow, Emily G; Thiffault, Isabelle; Consortium, Care Rare Canada; Turinsky, Andrei L; Pastinen, Tomi; Brudno, Michael; Boycott, Kym M

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants

利用癌症突变数据来指导种系错义变异的致病性分类

Haque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M; Price, E Magda; Walker, Susan; Malkin, David; Roth, Frederick P; Costain, Gregory

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist

TRIAGE-GS:一项针对等待临床遗传学家评估的罕见病患者,采用基因组学优先方法进行诊断的随机对照试验方案

Stanley, Kaitlin J; Chisholm, Caitlin; Gillespie, Meredith K; Caluseriu, Oana; Del Signore, Natalie; Elango, Sonya; Hartley, Taila; Hewson, Stacy; Kim, Raymond H; McSheffrey, Gordon; Mendoza-Londono, Roberto; Sawyer, Sarah L; Somerville, Martin; Venkataramanan, Viji; White-Brown, Alexandre; Telesca, Stephanie; Shickh, Salma; Marshall, Christian R; Ungar, Wendy J; Hayeems, Robin Z; Bhawra, Jasmin; Boycott, Kym M; Costain, Gregory

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

反复出现的纯合ACTN2变异(p.Arg506Gly)会导致隐性遗传性肌病。

Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A; Dyment, David A; Sampson, Jacinda B; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A Reghan; Mammen, Andrew L; Wheeler, Matthew T; O'Donnell-Luria, Anne; Bönnemann, Carsten G

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

与肌病、骨骼畸形、智力障碍和卵巢功能障碍相关的SOX8双等位基因变异

Warman-Chardon, Jodi; Hartley, Taila; Marshall, Aren Elizabeth; McBride, Arran; Couse, Madeline; Macdonald, William; Mann, Mellissa R W; Bourque, Pierre R; Breiner, Ari; Lochmüller, Hanns; Woulfe, John; Sampaio, Marcos Loreto; Melkus, Gerd; Brais, Bernard; Dyment, David A; Boycott, Kym M; Kernohan, Kristin

PP93 Health Technology Assessments For Rare Diseases In Australia: A Case Study On Cystic Fibrosis

PP93 澳大利亚罕见病健康技术评估:囊性纤维化案例研究

Ahmad, Maiss; Akhras, Kasem S; Saleh, Shadi; Viscosi, Carmelo Ettore; Di Prima, Alessia Anna; Torrisi, Antonina; Torrisi, Antonietta Alfia; Ferrante, Margherita; Ragusa, Rosalia; Marshall, Deborah A; Degeling, Koen; Tagimacruz, Toni; Seeger, Trevor A; Boycott, Kym M; Bernier, Francois; Mendoza-Londona, Roberto; MacDonald, Karen V; Hartley, Taila; Hayeems, Robin Z; Kievit, Wietske; Janssen, Jip; Oortwijn, Wija; Voitenko, Anton; Piniazhko, Oresta; Sucu, Rabia; Alonzo, Carolina; Ding, Ding; Poon, Jiat-Ling; Zschocke, Juergen; Zhang, Lei; Toshihiko, Aranishi; Myrick, Shane; Hill, Jennifer; Larkin, Louise; Perez, Nancy; Delbecque, Laure; Kelles, Silvana; Pereira, Camila; Martins, Carina; Reis, Daniel; Azevedo, Ernesto; Ribeiro, Geraldo; Zocrato, Karina; Carvalho, Lélia; Freitas, Marcela; Horta, Maria; Barbosa, Mariana; Talim, Mariza; Borin, Marcus; Triñanes, Yolanda; Faraldo-Vallés, María J; Gómez, Patricia; Cantero-Muñoz, Paula; Vicente-Edo, María J; Reviriego-Rodrigo, Eva; Novella, Blanca; Toledo-Chávarri, Ana; Di Brino, Eugenio; Antonini, Debora; Falasca, Giulia; Basile, Michele; Rumi, Filippo; Cicchetti, Americo; Lyrio, Amanda Oliveira; Mega, Tacila Pires; de Freitas Lopes, Ana Carolina; Ferré, Felipe; Santana Barreira, Antônio Marcos; Portugal, Clarice Moreira; de Carvalho, Samara Helena; Neiva Pantuzza, Laís Lessa; Schluckebier Bonan, Luciene Fontes; Canuto Santos, Vania Cristina; Erskine, Jamie; Tan, Ping-Tee; Pearce, Fiona; Quek, Shawn; Teo, Sok Huang; Moltó-Puigmartí, Carolina; Gallastegui-Calvache, Edurne; Cirillo, Davide; Vivanco-Hidalgo, Rosa Maria; Pires, Wolney; Borges, Stefani; Rodrigues, Fernanda; da Costa, Nathalia; Louly, Priscila; Prado, Clementina; Santos, Vania; See-Toh, Rachel; Ooi, Lydia; Ng, Zhen Long; Soon, Swee Sung; Ju, Hong; Ng, Kwong; Taylor, Colman; Daugbjerg, Signe; Di Bidino, Rossella; Cicchetti, Americo; Ng, Zhen Long; Ju, Hong; Ng, Jaryl; Ng, Kwong; Low, Eunice; André-Vert, Joëlle; Guerrier, Marc; Fanelli, Gaëlle; Galbraith, Margaret; Alsaeedi, Amna; Richter, Dirk; Alazeezi, Hamda; Nassri, Farah; Wael, Mahmoud; Oortwijn, Wija; Bijlmakers, Leon; Bowles, Charlotte; Boyce, Rebecca; Hopkin, Gareth; Prettyjohns, Matthew; Hughes, Sophie; Hasler, Elise; McDermott, Katie; Myles, Susan; Zrubka, Zsombor; Annette, Champion; Di Bidino, Rossella; Holtorf, Anke-Peggy; Earla, Jagadeswara R; Boltyenkov, Artem; Tabata-Kelly, Masami; Asche, Carl Victor; Burrell, Anita; Gao, Yuan; Laka, Mah; Merlin, Tracy; Gallastegui-Calvache, Edurne; Moltó-Puigmartí, Carolina; Segur-Ferrer, Joan; Vivanco-Hidalgo, Rosa Maria; Jaiswal, Himani; D’Ausilio, Anna; Bending, Matthew

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

加拿大罕见病关怀组织:十年罕见病基因发现网络科学成果

Boycott, Kym M; Hartley, Taila; Kernohan, Kristin D; Dyment, David A; Howley, Heather; Innes, A Micheil; Bernier, Francois P; Brudno, Michael

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery

Genomics4RD:一个用于共享加拿大深度表型和多组学数据以促进国际罕见病基因发现的综合平台

Driver, Hannah G; Hartley, Taila; Price, E Magda; Turinsky, Andrei L; Buske, Orion J; Osmond, Matthew; Ramani, Arun K; Kirby, Emily; Kernohan, Kristin D; Couse, Madeline; Elrick, Hillary; Lu, Kevin; Mashouri, Pouria; Mohan, Aarthi; So, Delvin; Klamann, Conor; Le, Hannah G B H; Herscovich, Andrea; Marshall, Christian R; Statia, Andrew; Canada Consortium, Care Rare; Knoppers, Bartha M; Brudno, Michael; Boycott, Kym M

Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation

将全外显子组测序定位在罕见病诊断流程中以优化其效用:一项观察性队列研究方案及经济评估

Hayeems, Robin Z; Bernier, Francois; Boycott, Kym M; Hartley, Taila; Michaels-Igbokwe, Christine; Marshall, Deborah A