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

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

GA4GH表型包驱动的孟德尔遗传病基因型-表型相关性表征

Rekerle, Lauren; Danis, Daniel; Rehburg, Filip; Graefe, Adam S L; Bily, Viktor; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Chimirri, Leonardo; Chong, Jessica X; Connelly, Evan; de Vries, Bert B A; Dingemans, Alexander J M; Duyzend, Michael H; Freiberger, Tomas; Gehle, Petra; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Ladewig, Markus S; Love, Michael I; Marcello, Allison J; Mordhorst, Alexander; Munoz-Torres, Monica C; Reese, Justin; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Vladyka, Ondrej; Zocche, David; Thun, Sylvia; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N

Rabies Reemergence, Central Europe, 2022-2024

2022-2024年中欧狂犬病疫情再度出现

Robardet, Emmanuelle; Smreczak, Marcin; Orłowska, Anna; Malik, Peter; Nándori, Alexandra; Dirbáková, Zuzana; Odaloš, Rastislav; Rudoi, Oleksii; Polupan, Ivan; Groza, Oxana; Arseniev, Serghei; Barbuceanu, Florica; Vuta, Vlad; Picard-Meyer, Evelyne

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

Calcium Phosphate-Poly(methyl methacrylate) Composite Layers Synthetized in Radio-Frequency Magnetron Sputtering Discharge

射频磁控溅射放电法合成磷酸钙-聚甲基丙烯酸甲酯复合层

Groza, Andreea; Hurjui, Maria E; Yehia-Alexe, Sasa A; Butoi, Bogdan; Stoica, Silviu D

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

将多组学转化为医疗保健:可扩展和公平实施的必要条件

Tumiene, Birute; Adams, David R; Allaway, Robert; Barrero, Maria J; Chan, Chun-Hung; Faundes, Víctor; Fear, Vanessa S; Glezer, Polina; Fuchs, Claudia; Groza, Tudor; Houwink, Elisa J F; Jamuar, Saumya Shekhar; Letinturier, Mary Catherine V; Lomash, Richa Madan; Puri, Ratna Dua; Reichardt, Juergen K V; Mehrian-Shai, Ruty; van der Westhuizen, Francois H; Varshney, Gaurav K; Yamamoto, Shinya; Baynam, Gareth

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

对大型语言模型罕见病知识的系统性评估:大型语言模型对罕见病了解多少?

Groza, Tudor; Marcello, Allison J; Carlisle, Tristan; Lim, Weng Khong; Haendel, Melissa; Karnani, Neerja; Robinson, Peter N; Graessner, Holm; Chong, Jessica X; Baynam, Gareth; Jamuar, Saumya Shekhar

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case

利用计算方法构建疾病自然史的第一步:从努南综合征案例中汲取的经验教训

Groza, Tudor; Rayabsri, Warittha; Gration, Dylan; Hariram, Harshini; Jamuar, Saumya Shekhar; Baynam, Gareth

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

利用长读长测序技术对个人DNA进行分析,以检测扩展的甲基化组和数量性状位点。

Groza, Cristian; Ge, Bing; Cheung, Warren A; Pastinen, Tomi; Bourque, Guillaume

Microbiota-Driven Immune Dysregulation Along the Gut-Lung-Vascular Axis in Asthma and Atherosclerosis

肠道菌群驱动的免疫失调在哮喘和动脉粥样硬化中沿肠-肺-血管轴的变化

Zimbru, Elena-Larisa; Zimbru, Răzvan-Ionuț; Bojin, Florina-Maria; Chiriac, Sorin Dan; Haidar, Laura; Andor, Minodora; Tănasie, Gabriela; Tatu, Carmen; Georgescu, Marius; Uța, Cristina; Bănărescu, Camelia-Felicia; Groza, Sabine; Panaitescu, Carmen

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

GA4GH表型包语料库:用于基因组诊断和发现的病例级表型分析

Danis, Daniel; Bamshad, Michael J; Bridges, Yasemin; Caballero-Oteyza, Andrés; Cacheiro, Pilar; Carmody, Leigh C; Chimirri, Leonardo; Chong, Jessica X; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J; Graefe, Adam S L; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O B; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S; Marcello, Allison J; Mattina, Teresa; Mungall, Christopher J; Munoz-Torres, Monica C; Reese, Justin T; Rehburg, Filip; Reis, Bárbara C S; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F; Zocche, David; Haendel, Melissa A; Robinson, Peter N