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

Clinical and Genetic Analysis of Patients With TK2 Deficiency

TK2 缺乏症患者的临床和基因分析

Ceballos, Francisco; Serrano-Lorenzo, Pablo; Bermejo-Guerrero, Laura; Blázquez, Alberto; Quesada-Espinosa, Juan F; Amigo, Jorge; Minguez, Pablo; Ayuso, Carmen; García-Arumí, Elena; Muelas, Nuria; Jaijo, Teresa; Nascimento, Andres; Galán-Rodriguez, Beatriz; Paradas, Carmen; Arenas, Joaquín; Carracedo, Angel; Martí, Ramon; Martín, Miguel A; Domínguez-González, Cristina

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

基于三联体的外显子组测序揭示了智力障碍中新生变异的高发生率

Brea-Fernández Alejandro J, Álvarez-Barona Miriam, Amigo Jorge, Tubío-Fungueiriño María, Caamaño Pilar, Fernández-Prieto Montserrat, Barros Francisco, De Rubeis Silvia, Buxbaum Joseph, Carracedo Ángel

CSVS, a crowdsourcing database of the Spanish population genetic variability

CSVS,一个西班牙人口遗传变异性的众包数据库

Peña-Chilet, María; Roldán, Gema; Perez-Florido, Javier; Ortuño, Francisco M; Carmona, Rosario; Aquino, Virginia; Lopez-Lopez, Daniel; Loucera, Carlos; Fernandez-Rueda, Jose L; Gallego, Asunción; García-Garcia, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Alvaro; Lopez-Escamez, Jose A; Borrego, Salud; Antiñolo, Guillermo; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Morte, Beatriz; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín

Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation

蜜蜂蜂群寄生虫多样性的纵向分析:新分类群、混合感染高频率和季节性变异模式

Bartolomé, Carolina; Buendía-Abad, María; Benito, María; Sobrino, Beatriz; Amigo, Jorge; Carracedo, Angel; Martín-Hernández, Raquel; Higes, Mariano; Maside, Xulio

Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data

拓展定制化多平台微单倍型面板的适用范围:生物地理祖源推断和扩展参考数据

de la Puente, María; Ruiz-Ramírez, Jorge; Ambroa-Conde, Adrián; Xavier, Catarina; Amigo, Jorge; Casares de Cal, María Ángeles; Gómez-Tato, Antonio; Carracedo, Ángel; Parson, Walther; Phillips, Christopher; Lareu, María Victoria

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

早期结直肠癌为林奇综合征到CMMRD表型连续谱提供了新的证据

Fernandez-Rozadilla, Ceres; Alvarez-Barona, Miriam; Schamschula, Esther; Bodo, Sahra; Lopez-Novo, Anael; Dacal, Andres; Calviño-Costas, Consuelo; Lancho, Angel; Amigo, Jorge; Bello, Xabier; Cameselle-Teijeiro, Jose Manuel; Carracedo, Angel; Colas, Chrystelle; Muleris, Martine; Wimmer, Katharina; Ruiz-Ponte, Clara

Whole Exome Sequencing Identifies New Host Genomic Susceptibility Factors in Empyema Caused by Streptococcus pneumoniae in Children: A Pilot Study.

全外显子组测序揭示儿童肺炎链球菌脓胸中新的宿主基因组易感因素:一项初步研究。

Salas Antonio, Pardo-Seco Jacobo, Barral-Arca Ruth, Cebey-López Miriam, Gómez-Carballa Alberto, Rivero-Calle Irene, Pischedda Sara, Currás-Tuala María-José, Amigo Jorge, Gómez-Rial José, Martinón-Torres Federico

SparkBWA: Speeding Up the Alignment of High-Throughput DNA Sequencing Data

SparkBWA:加速高通量DNA测序数据的比对

Abuín, José M; Pichel, Juan C; Pena, Tomás F; Amigo, Jorge

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

二代测序时代心律失常疾病的基因分析:布鲁加达综合征临床决策的复杂性

Allegue, Catarina; Coll, Mònica; Mates, Jesus; Campuzano, Oscar; Iglesias, Anna; Sobrino, Beatriz; Brion, Maria; Amigo, Jorge; Carracedo, Angel; Brugada, Pedro; Brugada, Josep; Brugada, Ramon

Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans

来自“千人基因组计划”的线粒体基因组揭示了现代托斯卡纳人身上新的近东特征

Gómez-Carballa, Alberto; Pardo-Seco, Jacobo; Amigo, Jorge; Martinón-Torres, Federico; Salas, Antonio