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

Boosting SIV-specific CD8+ T cell responses prior to ART interruption extends time to SIVmac239 rebound.

在 ART 中断之前增强 SIV 特异性 CD8+ T 细胞反应可延长 SIVmac239 反弹的时间。

Omange Were R, Varco-Merth Benjamin D, Fadeyi Omo, Marenco Alejandra, Takata Hiroshi, Duell Derick M, Goodwin William D, Armitage Paula, Fennessey Christine M, Kose Emek, Immonen Taina T, Kosmider Ewelina, Bosche William J, Fast Randy, Homick Chris, Oswald Kelli, Shoemaker Rebecca, Bochart Rachele, MacAllister Rhonda, Labriola Caralyn S, Smedley Jeremy V, Axthelm Michael K, Edlefsen Paul T, Keele Brandon F, Lifson Jeffrey D, Gergen Janina, Petsch Benjamin, Rauch Susanne, Picker Louis J, Okoye Afam A

International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease

国际小鼠表型分析联盟门户网站:促进基因功能研究,并为人类疾病研究提供见解

Wilson, Robert; Bülbül Ataç, Tuğba; Cheng, Tsz Kwan; Frost, Anthony; Güneş, Osman; Kan, Marina; Keskivali-Bond, Piia; López Gómez, Federico; McLaughlin, James; Mucha, Jakub; Munava, Tawanda; Oliveira, Carla; Pava, Diego; Peña Estrada, Jose Francisco; Selkirk, Ewan; Vardal, Bora; Wells, Sara; Cacheiro, Pilar; Smedley, Damian; Parkinson, Helen

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

CTLH 成分 MAEA 的缺失会损害 DNA 修复和复制,并导致发育迟缓。

Hough Søren H, Jhujh Satpal S, Awwad Samah W, Lewis Oliver E, Lam Simon, Thomas John C, Mosler Thorsten, Bader Aldo, Bartik Lauren, McKee Shane, Amudhavalli Shivarajan, Colin Estelle, Damseh Nadirah, Clement Emma, Cacheiro Pilar, Majumdar Anirban, Smedley Damian, Fluss Joël, Giannini Rosalinda, Thiffault Isabelle, Zagnoli Vieira Guido, Belotserkovskaya Rimma, Smerdon Stephen J, Beli Petra, Galanty Yaron, Carnie Christopher J, Stewart Grant S, Jackson Stephen P

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

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

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools

系统性基准测试表明,大型语言模型尚未达到传统罕见病决策支持工具的诊断准确率。

Reese, Justin T; Chimirri, Leonardo; Bridges, Yasemin; Danis, Daniel; Caufield, J Harry; Gargano, Michael A; Kroll, Carlo; Schmeder, Andrew; Liu, Fengchen; Wissink, Kyran; McMurry, Julie A; Graefe, Adam S L; Niyonkuru, Enock; Korn, Daniel R; Casiraghi, Elena; Valentini, Giorgio; Jacobsen, Julius O B; Haendel, Melissa; Smedley, Damian; Mungall, Christopher J; Robinson, Peter N

Glioblastoma invasion into different organoid hosts reveals cell-intrinsic and proliferative migratory programs.

胶质母细胞瘤侵入不同的类器官宿主揭示了细胞内在的增殖迁移程序。

Akhunbay-Fudge Christopher Y, Irving Bronwyn K, Ismail Alima, Samuel Sabrina, Smedley Emma, Bradford Holly E, Bagley Steven, Baker Alexander, Hagan Iain M, Gendoo Deena M A, Critchley Kevin, Mathew Ryan K, Wurdak Heiko

Genetic and pharmacological inactivation of peptidoglycan remodeling increases antibiotic susceptibility of vancomycin-resistant Enterococcus faecium

通过基因和药理学手段抑制肽聚糖重塑可提高耐万古霉素粪肠球菌对抗生素的敏感性。

Fam, Kyong T; Chodisetti, Pavan Kumar; Wang, Zifei; Homer, Joshua A; Smedley, Christopher J; Kitamura, Seiya; Silva, Benjamin; Xiong, Yijun; Hansel-Harris, Althea; Holcomb, Matthew; Babarinde, Simeon; Turner, Adrianna M; Van Tyne, Daria; Wilson, Ian A; Forli, Stefano; Cravatt, Benjamin F; Park, Donghyun; Wolan, Dennis W; Moses, John E; Hang, Howard C

A Phenotypic Paradigm for Cerebral Palsy Genetics

脑瘫遗传学的表型范式

Arterbery, Adam S; Gargano, Michael A; Bagley, Anita; Sundaramurthi, Jagadish Chandrabose; Rekerle, Lauren; Ordaz-Robles, Thania; Danis, Daniel; Graefe, Adam Sl; Arenas-Díaz, Ana L; Bauer, Jeremy P; Blau, Hannah; Carmody, Leigh; Carroll, Kristen L; Davis, Janice; Giampietro, Philip F; Gustafson, Anxhela Gjyshi; Hernandez, Monserat; Jacobsen, Julius Ob; Lemhouse, Paige; Millet, David; Mukherjee, Shubhra; Nairne, Patrick; Nice, Emily; Plotkin, Talia; Powell, Kenneth; Raney, Ellen M; Shingle, Mallory; Smedley, Damian; Smith, Peter A; Soliman, Demiana A; Westberry, David E; Davids, Jon R; Robinson, Peter N

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana