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

EEPD1 evolved a unique DNA clamping dimer protecting reversed replication forks

EEPD1进化出一种独特的DNA钳制二聚体,保护反向复制叉。

Shen, Runze; Sarker, Altaf H; Chen, Yue; Liu, Min; Roy, Sunetra; Arvai, Andrew S; Bacolla, Albino; Ahmed, Zamal; Katsonis, Panagiotis; Hammel, Michal; Kuraoka, Isao; Tsai, Miaw-Sheue; Irie, Corydon; Webb, Lukas; Lichtarge, Olivier; Tsai, Chi-Lin; Tsutakawa, Susan E; Schlacher, Katharina; Tainer, John A

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

整合外显子组测序和机器学习技术发现,MICB 和干扰素通路基因是系统性硬化症风险的促成因素。

Ketkar, Shamika; Dai, Hongzheng; Burrage, Lindsay; Murdock, David; Dawson, Brian; Acosta-Herrera, Marialbert; Kerick, Martin; Martin, Javier; Wilhelm, Kevin; Asmussen, Jennifer Kay; Lichtarge, Olivier; Center, Regeneron Genetics; Assassi, Shervin; Mayes, Maureen D; Lee, Brendan H

Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects

Meta-EA:一种针对特定基因的计算工具组合,用于预测错义变异的影响

Katsonis, Panagiotis; Lichtarge, Olivier

Investigating the Effect of Increased TMEM106B in a Tauopathy Model

研究TMEM106B增加对tau蛋白病模型的影响

Patel, Haritosh; Huang, Yu Xuan; Dengiz, Duygu; Pravdivtseva, Mariya; Jansen, Olav; Quandt, Eckhard; Aizenberg, Joanna; de Haro, Maria; Fadel, Omar El; Stephens, Morgan Catherine; Lee, Kwanghyuk Danny; Lichtarge, Olivier; Al‐Ramahi, Ismael; Botas, Juan; Li‐Kroeger, David; Al‐Ramahi, Ismael; Smith, Nathaniel; Marella, Aditi; Amoh, Bismark K; Saladi, Saathwik; Marfathia, Ruhee; Botas, Juan; Seyfried, Nicholas T; Levey, Allan I; Shulman, Joshua M; Amador, Adulfo Anaya; Aguirre‐Lamus, Isabella; Timperman, Dylan Lawrence; Kim, Peter; Jankowsky, Joanna L; Al‐Ramahi, Ismael

Integrative whole slide image and spatial transcriptomics analysis with QuST and QuPath

利用 QuST 和 QuPath 进行全切片图像和空间转录组学整合分析

Huang, Chao-Hui; Lichtarge, Sara; Fernandez, Diane

Meta-evolutionary exome analysis identifies novel type 2 diabetes mellitus genes in the UK Biobank and all of us

元进化外显子组分析在英国生物银行中发现了新的2型糖尿病基因,我们所有人都是如此。

Wilhelm, Kevin; Asmussen, Jennifer; Lee, Kwanghyuk; Samieinasab, Maryam; Asante, Emmanuel; Kimmel, Marek; Lichtarge, Olivier

Predicting the impact of rare variants on RNA splicing in CAGI6

预测罕见变异对CAGI6中RNA剪接的影响

Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A; Douglas, Andrew G L; Bunyan, David J; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D; Mount, Stephen M; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

CAGI6 ID 检测组挑战:对 415 名患有神经发育障碍 (NDD) 的儿童进行表型和变异预测评估

Aspromonte, Maria Cristina; Del Conte, Alessio; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C E; Leonardi, Emanuela

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers

评估在原发性人类非小细胞肺癌中发现的STK11变体的激酶活性预测因子

Chen, Yile; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Casadio, Rita; Martelli, Pier Luigi; Savojardo, Castrense; Manfredi, Matteo; Shen, Yang; Sun, Yuanfei; Katsonis, Panagiotis; Lichtarge, Olivier; Pejaver, Vikas; Seward, David J; Kamandula, Akash; Bakolitsa, Constantina; Brenner, Steven E; Radivojac, Predrag; O'Donnell-Luria, Anne; Mooney, Sean D; Jain, Shantanu

Assessing predictions on fitness effects of missense variants in HMBS in CAGI6

评估CAGI6中HMBS错义变异对适应性影响的预测

Zhang, Jing; Kinch, Lisa; Katsonis, Panagiotis; Lichtarge, Olivier; Jagota, Milind; Song, Yun S; Sun, Yuanfei; Shen, Yang; Kuru, Nurdan; Dereli, Onur; Adebali, Ogun; Alladin, Muttaqi Ahmad; Pal, Debnath; Capriotti, Emidio; Turina, Maria Paola; Savojardo, Castrense; Martelli, Pier Luigi; Babbi, Giulia; Casadio, Rita; Pucci, Fabrizio; Rooman, Marianne; Cia, Gabriel; Tsishyn, Matsvei; Strokach, Alexey; Hu, Zhiqiang; van Loggerenberg, Warren; Roth, Frederick P; Radivojac, Predrag; Brenner, Steven E; Cong, Qian; Grishin, Nick V