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

The evolution of health data ecosystems: An international survey

健康数据生态系统的演变:一项国际调查

Lerner-Ellis, Jordan P; Price, E Magda; Subhani, Shazia; Boughtwood, Tiffany; Brion, Marie-Jo; Rendon, Augusto; Cividanes, Lene; Gemmer, Jacob; Ciofani, Danielle; Bertin, Nicolas; Wee, Seow Shih; Robertson, Stephen; Baz, Batoul; Crameri, Katrin; Österle, Sabine; Wirta, Valtteri; Sikora, Per; Lindstrand, Anna; Nowak, Frédérique; Amado, Inês; Mulder, Nicola Jane; Ganna, Andrea; Goodhand, Peter; Smith, Lindsay D; Marshall, Christian R; Zawati, Ma'n; Ferretti, Vincent; Michaud, Jacques L; Bulman, Dennis; Bernier, Francois; Boycott, Kym M

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

HLA Variation and SARS-CoV-2 Specific Antibody Response

HLA变异与SARS-CoV-2特异性抗体反应

Wolday, Dawit; Fung, Chun Yiu Jordan; Morgan, Gregory; Casalino, Selina; Frangione, Erika; Taher, Jennifer; Lerner-Ellis, Jordan P

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

基因组测序在罕见病诊断中的独特优势

Wojcik, Monica H; Lemire, Gabrielle; Zaki, Maha S; Wissman, Mariel; Win, Wathone; White, Sue; Weisburd, Ben; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gazda, Hanna T; Ganesh, Vijay S; Ganapathy, Mythily; Gallacher, Lyndon; Fu, Jack; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bonnemann, Carsten; Beggs, Alan H; Baxter, Samantha M; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Chrissy; Rehm, Heidi L; O'Donnell-Luria, Anne

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

琥珀酸-CoA连接酶α亚基缺乏的表型变异

Demirbas Didem, Harris David J, Arn Pamela H, Huang Xiaoping, Waisbren Susan E, Anselm Irina, Lerner-Ellis Jordan P, Wong Lee-Jun, Levy Harvey L, Berry Gerard T