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

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

对同源域中罕见变异体的DNA结合分析揭示了决定同源域特异性的残基

Kock Kian Hong, Kimes Patrick K, Gisselbrecht Stephen S, Inukai Sachi, Phanor Sabrina K, Anderson James T, Ramakrishnan Gayatri, Lipper Colin H, Song Dongyuan, Kurland Jesse V, Rogers Julia M, Jeong Raehoon, Blacklow Stephen C, Irizarry Rafael A, Bulyk Martha L

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

扩展 PRAAS 谱系:6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变

van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander

Stratified analyses refine association between TLR7 rare variants and severe COVID-19

分层分析进一步明确了TLR7罕见变异与重症COVID-19之间的关联。

Boos, Jannik; van der Made, Caspar I; Ramakrishnan, Gayatri; Coughlan, Eamon; Asselta, Rosanna; Löscher, Britt-Sabina; Valenti, Luca V C; de Cid, Rafael; Bujanda, Luis; Julià, Antonio; Pairo-Castineira, Erola; Baillie, J Kenneth; May, Sandra; Zametica, Berina; Heggemann, Julia; Albillos, Agustín; Banales, Jesus M; Barretina, Jordi; Blay, Natalia; Bonfanti, Paolo; Buti, Maria; Fernandez, Javier; Marsal, Sara; Prati, Daniele; Ronzoni, Luisa; Sacchi, Nicoletta; Schultze, Joachim L; Riess, Olaf; Franke, Andre; Rawlik, Konrad; Ellinghaus, David; Hoischen, Alexander; Schmidt, Axel; Ludwig, Kerstin U

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

对大量听力障碍患者进行外显子组变异优先排序表明,IKZF2 与非综合征性听力损失相关,并指导未来对未解决病例的研究

Velde Hedwig M, Vaseghi-Shanjani Maryam, Smits Jeroen J, Ramakrishnan Gayatri, Oostrik Jaap, Wesdorp Mieke, Astuti Galuh, Yntema Helger G, Hoefsloot Lies, Lanting Cris P, Huynen Martijn A, Lehman Anna, Turvey Stuart E, Pennings Ronald J E, Kremer Hannie

PANDORA v2.0: Benchmarking peptide-MHC II models and software improvements

PANDORA v2.0:肽-MHC II 模型基准测试及软件改进

Parizi, Farzaneh M; Marzella, Dario F; Ramakrishnan, Gayatri; 't Hoen, Peter A C; Karimi-Jafari, Mohammad Hossein; Xue, Li C

Understanding structure-guided variant effect predictions using 3D convolutional neural networks

利用三维卷积神经网络理解结构引导的变异效应预测

Ramakrishnan, Gayatri; Baakman, Coos; Heijl, Stephan; Vroling, Bas; van Horck, Ragna; Hiraki, Jeffrey; Xue, Li C; Huynen, Martijn A

Parallel evolution and enhanced virulence upon in vivo passage of an RNA virus in Drosophila melanogaster

果蝇体内RNA病毒的平行进化和体内传代增强

Lezcano, Oscar M; Fuhrmann, Lara; Ramakrishnan, Gayatri; Beerenwinkel, Niko; Huynen, Martijn A; van Rij, Ronald P

Exploring anti-malarial potential of FDA approved drugs: an in silico approach

探索FDA批准药物的抗疟潜力:一种计算机模拟方法

Ramakrishnan, Gayatri; Chandra, Nagasuma; Srinivasan, Narayanaswamy

Computational recognition and analysis of hitherto uncharacterized nucleotide cyclase-like proteins in bacteria

利用计算机技术识别和分析细菌中此前未被表征的核苷酸环化酶样蛋白

Ramakrishnan, Gayatri; Jain, Abha; Chandra, Nagasuma; Srinivasan, Narayanaswamy

Homology-Based Prediction of Potential Protein-Protein Interactions between Human Erythrocytes and Plasmodium falciparum

基于同源性的预测人类红细胞与恶性疟原虫之间潜在的蛋白质-蛋白质相互作用

Ramakrishnan, Gayatri; Srinivasan, Narayanaswamy; Padmapriya, Ponnan; Natarajan, Vasant