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

Genomes reveal marked differences in the adaptive evolution between orangutan species

基因组揭示了猩猩物种间适应性进化的显著差异

Mattle-Greminger, Maja P; Bilgin Sonay, Tugce; Nater, Alexander; Pybus, Marc; Desai, Tariq; de Valles, Guillem; Casals, Ferran; Scally, Aylwyn; Bertranpetit, Jaume; Marques-Bonet, Tomas; van Schaik, Carel P; Anisimova, Maria; Krützen, Michael

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism

NLRP3嵌合体携带者的临床特征、遗传谱和克隆演化的新见解

Bonet, Nuria; Mascaro, Jose M Jr; Hurtado-Navarro, Laura; Angosto-Bazarra, Diego; Callejas-Rubio, Jose Luis; Clemente, Daniel; Souto, Alejandro; Lima, Olalla; Palmou-Fontana, Natalia; Baselga, Eulalia; Jiménez-Treviño, Santiago; Remesal, Agustin; Andreu-Barasoain, Marta; Fernandez-Dominguez, Luis; Riera-Monroig, Josep; Aparicio, Maria; Garcia-Herrero, Juan; Pesqué, David; Sanchez-Calvin, Maria Teresa; Lezana-Rosales, Jose Miguel; Correyero-Plaza, Maria; Garcia-Villalba, Julio; Bolaño, Victor; Peiro, Sara; Diaz, Mar; Vlagea, Alexandru; Lorca, Daniel; Fabregat, Virginia; Anton, Maria Carmen; Plaza, Susana; Gonzalez-Granado, Luis Ignacio; Postigo, Concepción; de Morales, Jose Maria Garcia-Ruiz; de la Fuente, Enrique Gómez; Iglesias, Estibaliz; Gomez-Roman, Javier; Vázquez-Triñanes, Caritina; Lopez-Robledillo, Juan Carlos; Ortego-Centeno, Norberto; Giménez-Arnau, Ana María; Campistol, Josep M; Laayouni, Hafid; de Landazuri, Iñaki Ortiz; Yagüe, Jordi; Gonzalez-Roca, Eva; Mensa-Vilaro, Anna; Fornas, Oscar; Ramos, Eduardo; Pelegrin, Pablo; Casals, Ferran; Arostegui, Juan I

Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement

CD137缺陷的体细胞回复与Epstein-Barr病毒控制和临床改善相关

Batlle-Masó, Laura; Padrosa Pulido, Joan; Esteve-Codina, Anna; Perurena-Prieto, Janire; Franco-Jarava, Clara; Aguiló-Cucurull, Aina; Martínez-Gallo, Mónica; Cea, Cristina; Rodriguez-Aliberas, Marta; Soler-Palacín, Pere; Casals, Ferran; Redondo Velao, Sara; Torrent, Montserrat; Alsina, Laia; Colobran, Roger

Editorial: Rare diseases research and diagnosis in low- and middle-income countries

社论:低收入和中等收入国家的罕见病研究和诊断

Gonzaga-Jauregui, Claudia; Casals, Ferran; Dissanayake, Vajira H W

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance

罕见病中携带者过多提示大多数意义未明的变异可能不具有致病性。

Medaglia, Stefano; Reig-Palou, Jaume; Bellés, Ariadna; Moreno-Ruiz, Nerea; Rodríguez, Jairo; Armengol, Xavier; Aróstegui, Juan Ignacio; Armengol, Lluís; Guillén, Juan José; Laayouni, Hafid; Casals, Ferran

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism

西班牙VEXAS综合征队列:临床表现、治疗结果及UBA1嵌合体的新证据

Mascaro, Jose Manuel; Rodriguez-Pinto, Ignasi; Poza, Gabriela; Mensa-Vilaro, Anna; Fernandez-Martin, Julian; Caminal-Montero, Luis; Espinosa, Gerard; Hernández-Rodríguez, Jose; Diaz, Marina; Rita-Marques, Joana; Sanmarti, Raimon; Castañeda, Santos; Colunga, Dolores; Coto-Hernández, Rubén; Fanlo, Patricia; Elejalde, Jose Ignacio; Bujan, Segundo; Figueras, Ignasi; Marco, Francisco Manuel; Andrés, Mariano; Suárez, Silvia; Gonzalez-Garcia, Andres; Fustà-Novell, Xavier; Garcia-Belando, Clara; Granados, Ana; Fernandez-Figueras, Maria Teresa; Quilis, Neus; Orriols-Caba, Maria; Gómez de la Torre, Ricardo; Cid, Maria Cinta; Espígol-Frigolé, Georgina; Alvarez-Abella, Alba; Labrador, Eztizen; Rozman, Maria; Lopez-Guerra, Monica; Castillo, Paola; Alamo-Moreno, Jose R; Gonzalez-Roca, Eva; Plaza, Susana; Fabregat, Virginia; Lara, Rocio; Vicente-Rabaneda, Esther F; Tejedor-Vaquero, Sonia; Magri, Giuliana; Bonet, Nuria; Solis-Moruno, Manuel; Cerutti, Andrea; Fornas, Oscar; Casals, Ferran; Yagüe, Jordi; Aróstegui, Juan I

Somatic genetic variation in healthy tissue and non-cancer diseases

健康组织和非癌症疾病中的体细胞遗传变异

Solís-Moruno, Manuel; Batlle-Masó, Laura; Bonet, Núria; Aróstegui, Juan I; Casals, Ferran

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

导致Caspase-8切割抵抗性RIPK1诱导的自身炎症综合征的新型致病变异的特征分析

Tapiz I Reula, Alfonso José; Cochino, Alexis-Virgil; Martins, Andreia L; Angosto-Bazarra, Diego; de Landazuri, Iñaki Ortiz; Mensa-Vilaró, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María C; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi; Casals, Ferran; Oliva, Baldomero; Figueiredo, Antonio E; Pelegrín, Pablo; Aróstegui, Juan I

Correction to: Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

更正:导致Caspase-8裂解抵抗性RIPK1诱导的自身炎症综合征的新型致病变异的特征

Reula, Alfonso José Tapiz I; Cochino, Alexis-Virgil; Martins, Andreia L; Angosto-Bazarra, Diego; de Landazuri, Iñaki Ortiz; Mensa-Vilaro, Anna; Cabral, Marta; Baroja-Mazo, Alberto; Baños, María C; Lobato-Salinas, Zulema; Fabregat, Virginia; Plaza, Susana; Yagüe, Jordi; Casals, Ferran; Oliva, Baldomero; Figueiredo, Antonio E; Pelegrín, Pablo; Aróstegui, Juan I

Assessing the digenic model in rare disorders using population sequencing data

利用群体测序数据评估罕见病中的双基因模型

Moreno-Ruiz, Nerea; Lao, Oscar; Aróstegui, Juan Ignacio; Laayouni, Hafid; Casals, Ferran