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

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

Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core

扩大基因组分析和报告在研究中的应用:GENYSIS 研究核心

Foss, Kimberly S; Sneddon, Tam P; Fensterle, Eleanor P; Melville, Scott A; Xiong, Mai; Gregory, Christopher W; Greenwood, Paul; Rafferty, Kelly A; Hutchins, Elizabeth K; Vora, Neeta L; Gilmore, Kelly L; Hunter, Senyene E; Weck, Karen E; Berg, Jonathan S; Powell, Bradford C

d-[5-(11)C]-Glutamine Positron Emission Tomography Imaging for Diagnosis and Therapeutic Monitoring of Orthopedic Implant Infections

d-[5-(11)C]-谷氨酰胺正电子发射断层扫描成像在骨科植入物感染的诊断和治疗监测中的应用

Co, Cynthia M; Mulgaonkar, Aditi; Zhou, Ning; Nguyen, Tam P; Harris, Shelby; Sherwood, Amber; Ea, Vicki; Rubitschung, Katie; Castellino, Laila; Öz, Orhan K; Sun, Xiankai; Tang, Liping

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype

一名患有纤毛病表型的男性新生儿的WDR44启动子功能缺失

Sneddon, Tam P; Gilmore, Kelly L; Xiong, Mai; Weck, Karen E; Powell, Bradford C; Vora, Neeta L

In Situ Synthesis and Self-Assembly of Peptide-PEG Conjugates: A Facile Method for the Construction of Fibrous Hydrogels

肽-PEG缀合物的原位合成与自组装:一种构建纤维状水凝胶的简便方法

Asokan-Sheeja, Haritha; Awad, Kamal; Xu, Jiazhu; Le, Myan; Nguyen, Jenny N; Nguyen, Na; Nguyen, Tam P; Nguyen, Kytai T; Hong, Yi; Varanasi, Venu G; Liu, Xiaohua; Dong, He

Coprecipitation of Ce(III) oxide with UO(2)

Ce(III)氧化物与UO(2)共沉淀

Saleh, M; Hedberg, M; Tam, P L; Spahiu, K; Persson, I; Ekberg, C

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

严重脊髓性肌萎缩症患者YG盒结构域纯合错义变异:病例报告及变异特征分析

Li, Leping; Perera, Lalith; Varghese, Sonia A; Shiloh-Malawsky, Yael; Hunter, Senyene E; Sneddon, Tam P; Powell, Cynthia M; Matera, A Gregory; Fan, Zheng

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

对智力障碍/自闭症基因测序中常用基因进行临床有效性评估

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

评估基因-疾病关联的临床有效性:临床基因组资源开发的循证框架

Strande, Natasha T; Riggs, Erin Rooney; Buchanan, Adam H; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A; Sneddon, Tam P; Wright, Matt W; Milko, Laura V; Cherry, J Michael; Giovanni, Monica A; Murray, Michael F; O'Daniel, Julianne M; Ramos, Erin M; Santani, Avni B; Scott, Alan F; Plon, Sharon E; Rehm, Heidi L; Martin, Christa L; Berg, Jonathan S

Spatial variation of pneumonia hospitalization risk in Twin Cities metro area, Minnesota

明尼苏达州双城都市区肺炎住院风险的空间差异

Iroh Tam, P Y; Krzyzanowski, B; Oakes, J M; Kne, L; Manson, S