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

Insights into DNA repeat expansions among 900,000 biobank participants

对90万生物样本库参与者DNA重复序列扩增的深入了解

Hujoel, Margaux L A; Handsaker, Robert E; Tang, David; Kamitaki, Nolan; Mukamel, Ronen E; Rubinacci, Simone; Palamara, Pier Francesco; McCarroll, Steven A; Loh, Po-Ru

Exploring Genomic Variability in the Mediterranean Buffalo Breed: A Step Towards Custom SNP Array

探索地中海水牛品种的基因组变异性:迈向定制SNP芯片的一步

Arcuri, Chiara; Gabbianelli, Federica; Bencivenga, Francesca; Porcai, Gabriella; Pietrucci, Daniele; Picarone, Ludovica; Vignali, Giovanni; Toscano, Elvira; Di Maggio, Federica; Sepe, Leandra; Nunziato, Marcella; Manunza, Arianna; Lazzari, Barbara; Cozzi, Paolo; Rizzo, Francesca; Weisz, Alessandro; Smal, Marharyta; Biffani, Stefano; Castiglioni, Bianca; Paolella, Giovanni; Salvatore, Francesco; Rullo, Alessandro; Rubinacci, Salvatore; Cosenza, Gianfranco; Carpio, Mayra Gómez; Cimmino, Roberta; Di Vuolo, Gabriele; Iannuzzi, Leopoldo; Milanesi, Marco; Chillemi, Giovanni

Parent-of-origin effects on complex traits in up to 236,781 individuals

亲本来源效应对多达 236,781 名个体复杂性状的影响

Hofmeister, Robin J; Cavinato, Théo; Karimi, Roya; van der Graaf, Adriaan; Pajuste, Fanny-Dhelia; Kronberg, Jaanika; Taba, Nele; Mägi, Reedik; Vaudel, Marc; Rubinacci, Simone; Johansson, Stefan; Milani, Lili; Delaneau, Olivier; Kutalik, Zoltán

A phase 4, multicenter, global clinical study to evaluate discontinuation and rechallenge of pexidartinib in patients with tenosynovial giant cell tumor previously treated with pexidartinib

一项 4 期、多中心、全球临床研究,旨在评估既往接受过 pexidartinib 治疗的腱鞘巨细胞瘤患者停用 pexidartinib 和再次使用 pexidartinib 的疗效。

Desai, Jayesh; Wagner, Andrew J; Carrasco Garcia, Irene; Cesari, Marilena; Gordon, Michael; Lin, Chia-Chi; Papai, Zsuzsanna; Ryan, Christopher W; Tap, William D; Trent, Jonathan C; Gelderblom, Hans; Grimison, Peter; López Pousa, Antonio; Van Tine, Brian A; Rubinacci, Maria; Dai, Dong; Rajper, Abdul Waheed; Tecson, Kristen; Wooddell, Margaret; Stacchiotti, Silvia

Transcriptomic Profile of Human Osteoblast-like Cells Grown on Trabecular Titanium.

在钛小梁上生长的人类成骨细胞样细胞的转录组特征

Castoldi Giovanna, Mauri Mario, D'Aliberti Deborah, Spinelli Silvia, Testa Leonardo, Gaverina Federico, Rubinacci Alessandro, Villa Isabella, Bellelli Giuseppe, Zerbini Gianpaolo, Piazza Rocco, Zatti Giovanni

Polygenic risk score prediction accuracy convergence

多基因风险评分预测准确性收敛

Henches, Léo; Kim, Jihye; Yang, Zhiyu; Rubinacci, Simone; Pires, Gabriel; Albiñana, Clara; Boetto, Christophe; Julienne, Hanna; Frouin, Arthur; Auvergne, Antoine; Suzuki, Yuka; Djebali, Sarah; Delaneau, Olivier; Ganna, Andrea; Vilhjálmsson, Bjarni; Privé, Florian; Aschard, Hugues

Using Tangible User Interfaces (TUIs): Preliminary Evidence on Memory and Comprehension Skills in Children with Autism Spectrum Disorder

使用实体用户界面(TUI):对自闭症谱系障碍儿童记忆和理解能力的初步证据

De Luca, Mariagiovanna; Ilardi, Ciro Rosario; Dolce, Pasquale; Rega, Angelo; Di Fuccio, Raffaele; Rubinacci, Franco; Gallucci, Maria; Marangolo, Paola

MetaGLIMPSE: Meta Imputation of Low Coverage Sequencing Data for Modern and Ancient Genomes

MetaGLIMPSE:现代和古代基因组低覆盖率测序数据的元插补

Kumar, Kiran H; Rubinacci, Simone; Zӧllner, Sebastian

A Genomics England haplotype reference panel and imputation of UK Biobank

英国基因组学单倍型参考面板和英国生物银行的插补

Shi, Sinan; Rubinacci, Simone; Hu, Sile; Moutsianas, Loukas; Stuckey, Alex; Need, Anna C; Palamara, Pier Francesco; Caulfield, Mark; Marchini, Jonathan; Myers, Simon

A resampling-based approach to share reference panels

一种基于重采样的参考面板共享方法

Cavinato, Théo; Rubinacci, Simone; Malaspinas, Anna-Sapfo; Delaneau, Olivier