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

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病：一项新的多中心研究揭示了突变热点和基因型-表型相关性

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01843-8
Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K
发育与干细胞
发表日期：2025
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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

PRPH2相关视网膜营养不良：来自西班牙队列的103个家族的突变谱

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25052913
Fernández-Caballero, Lidia; Martín-Merida, Inmaculada; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Carreño, Ester; Fernandez-San Jose, Patricia; Irigoyen, Cristina; Jimenez-Rolando, Belen; Lopez-Grondona, Fermina; Mahillo, Ignacio; Martin-Gutierrez, María Pilar; Minguez, Pablo; Perea-Romero, Irene; Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Rodilla, Cristina; Rodriguez-Peña, Lidya; Sánchez-Barbero, Ana Isabel; Swafiri, Saoud T; Trujillo-Tiebas, María José; Zurita, Olga; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen
发表日期：2024
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The enduring enigma of sporadic chorea: A single center case series

散发性舞蹈病的长期谜团：单中心病例系列研究

期刊:
影响因子:
doi:10.5334/tohm.800
Garcia Ruiz, Pedro J; Feliz, Lola Diaz; Feliz, Cici E; Sanchez, Isabel Lorda; Fernandez, Almudena Avila; Kelly, Fiona Blanco; Tiebas, Maria Jose Trujillo; Del Val, Javier; Vinagre, Inma Navas
发表日期：2023
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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

汇总的基因组数据（例如队列特异性等位基因频率）可以提高未解决的遗传性视网膜营养不良病例中变异和基因的优先级排序

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms23158431
Iancu, Ionut-Florin; Perea-Romero, Irene; Núñez-Moreno, Gonzalo; de la Fuente, Lorena; Romero, Raquel; Ávila-Fernandez, Almudena; Trujillo-Tiebas, María José; Riveiro-Álvarez, Rosa; Almoguera, Berta; Martín-Mérida, Inmaculada; Del Pozo-Valero, Marta; Damián-Verde, Alejandra; Cortón, Marta; Ayuso, Carmen; Minguez, Pablo
发表日期：2022
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An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

对DNA变异检测流程的评估可以指导重新分析方案的制定，从而提高遗传疾病的诊断率。

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-021-00278-6
Romero, Raquel; de la Fuente, Lorena; Del Pozo-Valero, Marta; Riveiro-Álvarez, Rosa; Trujillo-Tiebas, María José; Martín-Mérida, Inmaculada; Ávila-Fernández, Almudena; Iancu, Ionut-Florin; Perea-Romero, Irene; Núñez-Moreno, Gonzalo; Damián, Alejandra; Rodilla, Cristina; Almoguera, Berta; Cortón, Marta; Ayuso, Carmen; Mínguez, Pablo
发表日期：2022
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

等位基因过载及其在巴德-比德尔综合征中的临床修饰作用

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-022-00311-2
Perea-Romero, Irene; Solarat, Carlos; Blanco-Kelly, Fiona; Sanchez-Navarro, Iker; Bea-Mascato, Brais; Martin-Salazar, Eduardo; Lorda-Sanchez, Isabel; Swafiri, Saoud Tahsin; Avila-Fernandez, Almudena; Martin-Merida, Inmaculada; Trujillo-Tiebas, Maria Jose; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Minguez, Pablo; Corton, Marta; Valverde, Diana; Ayuso, Carmen
发表日期：2022
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Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

下一代测序技术在揭示1036个西班牙遗传性黄斑营养不良家族的遗传学特征中的作用

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.63.2.11
Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Martin-Merida, Inmaculada; Blanco-Kelly, Fiona; Swafiri, Saoud; Lorda-Sanchez, Isabel; Trujillo-Tiebas, Maria José; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Corton, Marta; Avila-Fernandez, Almudena; Ayuso, Carmen
Sequencing
发表日期：2022
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Five years' experience of the clinical exome sequencing in a Spanish single center

西班牙某单一中心五年临床外显子组测序经验

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-022-23786-6
Arteche-López, A; Ávila-Fernández, A; Riveiro Álvarez, R; Almoguera, B; Bustamante Aragonés, A; Martin-Merida, I; López Martínez, M A; Giménez Pardo, A; Vélez-Monsalve, C; Gallego Merlo, J; García Vara, I; Blanco-Kelly, F; Tahsin Swafiri, S; Lorda Sánchez, I; Trujillo Tiebas, M J; Ayuso, C
发表日期：2022
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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

通过基因组测序进行精细断点定位，揭示了首例导致综合征性白内障患者 NHS 基因发生破坏的大 X 染色体倒位

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms222312713
Damián, Alejandra; Ionescu, Raluca Oancea; Rodríguez de Alba, Marta; Tamayo, Alejandra; Trujillo-Tiebas, María José; Cotarelo-Pérez, María Carmen; Pérez Rodríguez, Olga; Villaverde, Cristina; de la Fuente, Lorena; Romero, Raquel; Núñez-Moreno, Gonzalo; Mínguez, Pablo; Ayuso, Carmen; Cortón, Marta
白内障
发表日期：2021
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Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

在遗传性视网膜营养不良症中，使用基于规则的算法对意义不明的变异进行重新分类并确定其优先级

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-021-00182-z
Iancu, Ionut-Florin; Avila-Fernandez, Almudena; Arteche, Ana; Trujillo-Tiebas, Maria Jose; Riveiro-Alvarez, Rosa; Almoguera, Berta; Martin-Merida, Inmaculada; Del Pozo-Valero, Marta; Perea-Romero, Irene; Corton, Marta; Minguez, Pablo; Ayuso, Carmen
发表日期：2021
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