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

Low Cholesterol due to APOB Variants: Exploring the Balance Between Liver and Cardiovascular Risk

APOB变异体导致的低胆固醇:探索肝脏风险与心血管风险之间的平衡

Di Costanzo, Alessia; Pirona, Ilaria; Buonaiuto, Silvia; Covino, Stella; Maiorca, Carlo; Bini, Simone; Tramontano, Daniele; Minicocci, Ilenia; Baratta, Francesco; Colonna, Vincenza; Via, Allegra; D'Erasmo, Laura; Arca, Marcello

Insights from the Biorepository and Integrative Genomics pediatric resource

来自生物样本库和整合基因组学儿科资源的见解

Buonaiuto, Silvia; Marsico, Franco; Mohammed, Akram; Chinthala, Lokesh K; Amos-Abanyie, Ernestine K; Prins, Pjotr; Mozhui, Khyobeni; Rooney, Robert J; Williams, Robert W; Davis, Robert L; Finkel, Terri H; Brown, Chester W; Colonna, Vincenza

TGF-β1-mediated downregulation of L1CAM in pancreatic ductal adenocarcinoma drives upregulation of collagen 17A1 and MMP2, facilitating tumor invasiveness and metastasis.

TGF-β1介导的胰腺导管腺癌中L1CAM的下调驱动胶原蛋白17A1和MMP2的上调,从而促进肿瘤的侵袭性和转移

Cave Donatella Delle, Di Domenico Annalisa, Fantuz Marco, Ciotola Marianna, Mangini Maria, Buonaiuto Silvia, Corrado Brunella, Corona Marco, Saracino Federica, Andolfi Gennaro, Di Biase Ilaria, Cucciardi Antonio, Carrer Alessandro, Sainz Bruno Jr, Pirozzi Teresa, Re Daniele Lo, Colonna Vincenza, Minchiotti Gabriella, De Luca Anna Chiara, Lonardo Enza

A human CAGinSTEM platform for decoding HTT repeats' somatic instability links CAG interruption to HD pathology in neurons.

人类 CAGinSTEM 平台用于解码 HTT 重复序列的体细胞不稳定性,将 CAG 中断与神经元中的 HD 病理联系起来。

Zobel Martina, Damaggio Gianluca, Mignogna Maria Lidia, Besusso Dario, Scalzo Davide, Cossu Andrea, Trovesi Camilla, Crosti Mariacristina, Cortina Francesco, Campus Ilaria, Formenti Giulio, Mazzara Saveria, Gregoretti Francesco, Antonelli Laura, Oliva Gennaro, Zuccato Chiara, Colonna Vincenza, Conforti Paola, Cereda Matteo, Rossi Riccardo Lorenzo, Maestri Simone, Scolz Andrea, Iennaco Raffale, Cattaneo Elena

Machine learning models incorporating genotype and ancestry improve severe asthma risk prediction

结合基因型和祖源信息的机器学习模型可提高重症哮喘风险预测的准确性。

Tahmin, Nahian; Chinthala, Lokesh K; Marsico, Franco Leonel; Buonaiuto, Silvia; Mohammed, Akram; Carlisle, Annette; Gautam, Yadu; Colonna, Vincenza; Mersha, Tesfaye B; Davis, Robert L; Khojandi, Anahita

The Biorepository and Integrative Genomics resource for inclusive genomics: insights from a diverse pediatric and admixed cohort

生物样本库和整合基因组学资源促进包容性基因组学:来自多样化儿科和混合队列的见解

Buonaiuto, Silvia; Marsico, Franco; Mohammed, Akram; Chinthala, Lokesh K; Amos-Abanyie, Ernestine K; Prins, Pjotr; Mozhui, Kyobeni; Rooney, Robert J; Williams, Robert W; Davis, Robert L; Finkel, Terri H; Brown, Chester W; Colonna, Vincenza

Predictive medicine in a testis trio-family through a combined multi-omics approach

通过多组学联合方法对睾丸三联体家族进行预测医学研究

Di Maggio, Federica; Damaggio, Gianluca; Nunziato, Marcella; Buonaiuto, Silvia; Crocetto, Felice; Calabrese, Alessandra; Aveta, Achille; Vino, Gioacchino; Donvito, Giacinto; Pandolfo, Savio Domenico; Imbimbo, Ciro; Colonna, Vincenza; Salvatore, Francesco

Recombination between heterologous human acrocentric chromosomes

异源人类端着丝粒染色体之间的重组

Guarracino, Andrea; Buonaiuto, Silvia; de Lima, Leonardo Gomes; Potapova, Tamara; Rhie, Arang; Koren, Sergey; Rubinstein, Boris; Fischer, Christian; Gerton, Jennifer L; Phillippy, Adam M; Colonna, Vincenza; Garrison, Erik

A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice

一个新的数量性状基因座表明,Msh3与小鼠基因组范围内短串联重复序列扩增的倾向有关。

Maksimov, Mikhail O; Wu, Cynthia; Ashbrook, David G; Villani, Flavia; Colonna, Vincenza; Mousavi, Nima; Ma, Nichole; Lu, Lu; Pritchard, Jonathan K; Goren, Alon; Williams, Robert W; Palmer, Abraham A; Gymrek, Melissa

Visualization of automatically combined disease maps and pathway diagrams for rare diseases

罕见病疾病图谱和通路图的自动组合可视化

Gawron, Piotr; Hoksza, David; Piñero, Janet; Peña-Chilet, Maria; Esteban-Medina, Marina; Fernandez-Rueda, Jose Luis; Colonna, Vincenza; Smula, Ewa; Heirendt, Laurent; Ancien, François; Groues, Valentin; Satagopam, Venkata P; Schneider, Reinhard; Dopazo, Joaquin; Furlong, Laura I; Ostaszewski, Marek