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

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer

整合新一代测序和人工智能技术，用于识别和验证结直肠癌致病变异

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2025.1568205
Rodriguez-Salamanca, Juliana; Angulo-Aguado, Mariana; Orjuela-Amarillo, Sarah; Duque, Catalina; Sierra-Díaz, Diana Carolina; Contreras Bravo, Nora; Figueroa, Carlos; Restrepo, Carlos M; López-Cortés, Andrés; Cabrera, Rodrigo; Morel, Adrien; Fonseca-Mendoza, Dora Janeth
肿瘤
肠癌
肿瘤免疫
发表日期：2025
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Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients

将分子谱分析整合到胶质瘤诊断中：WHO-CNS5-2021成人型弥漫性胶质瘤分类对哥伦比亚患者的影响

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2025.1691983
Echeverría, Omar; Patiño-Aldana, Andrés Felipe; Chinchilla, Ana María; Contreras, Nora; Peralta, Stevan; Caballero, Nicolas; Tovar, Hanna Valentina; Palacio, José Manuel; Uribe, Verónica; Mineo-Pachón, Matteo; Velandia, Fernando; Castillo, William Mauricio Riveros; Valero, Nattaly; Silgado-Guzmán, Daniel Felipe; Ondo-Mendez, Alejandro; Fonseca-Mendoza, Dora Janeth
胶质瘤
发表日期：2025
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Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family

在一个高度近亲结婚的家族中检测到一种与泽尔维格综合征相关的新型纯合PEX5终止密码子变异

期刊:Application of Clinical Genetics
影响因子:2.8
doi:10.2147/TACG.S518636
Bernal-Bonilla, Ingrid Tatyana; Arias-Florez, Juan Sebastian; Ramirez, Sandra Ximena; Bayona-Gomez, Bibiana Alejandra; Castro-Castillo, Lina; Correa-Martinez, Valeria; Sanchez-Gomez, Yasmín; Santiago-Tovar, Natalia; Gaviria-Sabogal, Cristian Camilo; Contreras Bravo, Nora Constanza; Cabrera, Rodrigo; Morel, Adrien; Fonseca-Mendoza, Dora Janeth; Restrepo, Carlos M
发表日期：2025
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Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome

Adams-Oliver 6 型综合征中新型 De Novo DLL4 错义突变及高精度蛋白质结构预测

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.70933
Cabrera, Rodrigo; Montañez, Marlon Yesid Barrera; Gil-Quiñones, Sebastian Ramiro; Beltrán, Adriana Motta; Santiago-Tovar, Natalia; Contreras-Bravo, Nora; Fonseca-Mendoza, Dora Janeth; Restrepo, Carlos Martin; Morel, Adrien
DLL4
发表日期：2025
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Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients

通过对未经筛选的哥伦比亚患者进行扩展基因分析，发现乳腺癌易感基因的种系突变

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00623-7
Sierra-Díaz, Diana Carolina; Morel, Adrien; Fonseca-Mendoza, Dora Janeth; Bravo, Nora Contreras; Molano-Gonzalez, Nicolas; Borras, Mariana; Munevar, Isabel; Lema, Mauricio; Idrobo, Henry; Trujillo, Daniela; Serrano, Norma; Orduz, Ana Isabel; Lopera, Diego; González, Jaime; Rojas, Gustavo; Londono-De Los Ríos, Paula; Manneh, Ray; Cabrera, Rodrigo; Rubiano, Wilson; de la Peña, Jairo; Quintero, María Catalina; Mantilla, William; Restrepo, Carlos M
肿瘤
肿瘤免疫
乳腺癌
发表日期：2024
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Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population

利用下一代测序技术研究哥伦比亚人群中与 COVID-19 严重程度和长期 COVID 相关的宿主遗传风险因素

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-024-57982-3
Angulo-Aguado, Mariana; Carrillo-Martinez, Juan Camilo; Contreras-Bravo, Nora Constanza; Morel, Adrien; Parra-Abaunza, Katherine; Usaquén, William; Fonseca-Mendoza, Dora Janeth; Ortega-Recalde, Oscar
Sequencing
发表日期：2024
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Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer

乳腺癌易感基因BRCA1 3'UTR变异的功能分析

期刊:Application of Clinical Genetics
影响因子:2.6
doi:10.2147/TACG.S444546
Diana Carolina Sierra-Díaz, Rodrigo Cabrera, Laura Alejandra Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Janeth Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Martin Restrepo, Oscar Ortega-Recalde, Adrien Morel
肿瘤
乳腺癌
发表日期：2024
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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1

全球最大遗传性血管性水肿1型聚集病例的表型和分子特征

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0311316
Arias-Flórez, Juan Sebastian; Ramirez, Sandra Ximena; Bayona-Gomez, Bibiana; Castro-Castillo, Lina; Correa-Martinez, Valeria; Sanchez-Gomez, Yasmín; Usaquén-Martínez, William; Casas-Vargas, Lilian Andrea; Olmos Olmos, Carlos Eduardo; Contreras Bravo, Nora; Velandia-Piedrahita, Camilo Andres; Morel, Adrien; Cabrera-Perez, Rodrigo; Santiago-Tovar, Natalia; Gaviria-Sabogal, Cristian Camilo; Bernal, Ingrid Tatyana; Fonseca-Mendoza, Dora Janeth; Restrepo, Carlos M
发表日期：2024
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The polygenic implication of clopidogrel responsiveness: Insights from platelet reactivity analysis and next-generation sequencing

氯吡格雷反应性的多基因意义：来自血小板反应性分析和下一代测序的启示

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0306445
Echeverría, Omar; Angulo-Aguado, Mariana; Vela, Ricardo; Calderón-Ospina, Carlos; Parra, Katherine; Contreras, Nora; Morel, Adrien; Cabrera, Rodrigo; Restrepo, Carlos; Ramírez-Santana, Carolina; Ortega-Recalde, Oscar; Rojas-Quintana, Manuel Eduardo; Murcia, Luisa; Gaviria-Sabogal, Cristian Camilo; Valero, Nattaly; Fonseca-Mendoza, Dora Janeth
血小板
发表日期：2024
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Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations

麻醉常用药物相关可操作分子变异的药物基因组学特征：WES分析揭示新的突变

期刊:Frontiers in Pharmacology
影响因子:4.8
doi:10.3389/fphar.2023.1047854
Parada-Márquez, Juan Fernando; Maldonado-Rodriguez, Nicolás David; Triana-Fonseca, Paula; Contreras-Bravo, Nora Constanza; Calderón-Ospina, Carlos Alberto; Restrepo, Carlos M; Morel, Adrien; Ortega-Recalde, Oscar Javier; Silgado-Guzmán, Daniel Felipe; Angulo-Aguado, Mariana; Fonseca-Mendoza, Dora Janeth
发表日期：2023
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