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E

Elena Aller

health research institute la fe

29H指数
77论文数
3.3K被引数
收录论文 34
发表时间
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Integrated genome and RNA sequencing analysis as a powerful technical framework to diagnose primary ciliary dyskinesia整合基因组与RNA测序分析作为诊断原发性纤毛运动障碍的强大技术框架
errnpj Genomic Medicine
IF4.8
err2026-09-25
err0
errOAAI
errLidón Carretero-Vilarroig; Eduardo Calpena; Anna Esteve-Codina; Rosana Blanco-Máñez; Noelia Muñoz-Fernández; Isabel Ibáñez; Marc Dabad; Elena Aller; Gema García-García; Jose M. Millán; Miguel Armengot-Carceller; Teresa Jaijo
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Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification脊髓性肌萎缩症中SMN基因座的多模态表征：拷贝数定量和嵌合基因鉴定
errnpj Genomic Medicine
IF4.8
err2026-05-20
err0
errOAAI
errAlba Berzal-Serrano; Sonia González-Alvaredo; Iván Lesende; Lidón Carretero-Vilarroig; Teresa Jaijo; Ignacio Onsurbe; Karolina Aragon-Gawinska; Nancy Carolina Ñungo-Garzón; Inmaculada Pitarch-Castellano; Juan Francisco Vázquez-Costa; Elena Aller; José María Millán; Gema García-García
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Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progressionANO5相关肌病长期临床和放射学轨迹凸显肌肉MRI作为疾病进展的预测指标
errJournal of Neurology
IF4.6
err2026-04-15
err0
errOAAI
errKarolina Aragon-Gawinska; Pilar Martí; Inmaculada Azorín; Rafael Sivera; Elena Aller; Inmaculada Pitarch; Carlos Benlloch; María Tárrega; Rosa Vilar; Carmina Díaz; Rafael Sánchez-Roy; Fernando Más-Estellés; Marina Frasquet; Juan F. Vázquez-Costa; Mar Otero-Borell; Roger Vilchez; Juan J. Vilchez; Teresa Sevilla; Nuria Muelas
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Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies临床外显子测序：一种用于遗传性视网膜变性的基因诊断方法
errthe journal of molecular diagnostics
IF0
err2026-01-05
err0
PREAI
errPilar Barberán-Martínez; Mar Balanzá; Belén García-Bohórquez; Sofia Escobar-Parra; Romana García-Gil; Anselmo Feliciano-Sánchez; Teresa Jaijo; Elena Aller; Gema García-García; José M. Millán
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Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis原发性纤毛运动障碍患者的大系列临床、遗传、形态和功能相关性研究：一种具有争议性诊断的异质性疾病
errMolecular Diagnosis & Therapy
IF4.4
err2025-07-31
err0
errOAAI
errLidón Carretero-Vilarroig; Rosana Blanco-Máñez; Noelia Muñoz-Fernández; Isabel Ibáñez; Alba Berzal-Serrano; Ana Reula; Belén García-Bohórquez; Elena Aller; Gema García-García; Jose M. Millán; Miguel Armengot-Carceller; Teresa Jaijo
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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndromeTBC1D32基因中的两种新型突变增加了口面指综合征的复杂性。
errHUMAN GENOMICS
IF4.3
err2025-05-03
err0
errOAAI
errGarcia-Bohorquez, Belen; Marin-Reina, Purificacion; Aller, Elena; Barberan-Martinez, Pilar; Armengot, Miguel; Llorens-Salvador, Roberto; Almor-Palacios, Inmaculada Concepcion; Millan, Jose M.; Garcia-Garcia, Gema
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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community巴伦西亚社区脊髓性肌萎缩症试点新生儿筛查计划的结果
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-01-14
err0
errOAAI
errBerzal-Serrano, Alba; Garcia-Bohorquez, Belen; Aller, Elena; Jaijo, Teresa; Pitarch-Castellano, Inmaculada; Rausell, Dolores; Garcia-Garcia, Gema; Millan, Jose M.
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Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-12-01
err0
errOAAI
errGarcia-Bohorquez, Belen; Barberan-Martinez, Pilar; Aller, Elena; Jaijo, Teresa; Minguez, Pablo; Rodilla, Cristina; Fernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Ayuso, Carmen; Sanchis-Juan, Alba; Broekman, Sanne; de Vrieze, Erik; van Wijk, Erwin; Garcia-Garcia, Gema; Millan, Jose M.
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STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8STUB1突变可能是8型脊髓小脑性共济失调的遗传修饰因子
errMOVEMENT DISORDERS
IF7.6
err2024-07-04
err1
errOAAI
errBaviera-Munoz, Raquel; Carretero-Vilarroig, Lidon; Pedro-Ibor, Ana; Jaijo, Teresa; Del Valle-Carranza, Andrea; Martinez-Torres, Irene; Millan, Jose M.; Bataller, Luis; Aller, Elena
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Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish PopulationATXN2基因的中间重复扩增是ALS和FTD西班牙人群的危险因素
errBIOMEDICINES
IF3.9
err2024-02-02
err5
errOAAI
errBorrego-Hernandez, Daniel; Vazquez-Costa, Juan Francisco; Dominguez-Rubio, Raul; Exposito-Blazquez, Laura; Aller, Elena; Padro-Miquel, Ariadna; Garcia-Casanova, Pilar; Colomina, Maria J.; Martin-Arriscado, Cristina; Osta, Rosario; Cordero-Vazquez, Pilar; Esteban-Perez, Jesus; Povedano-Panades, Monica; Garcia-Redondo, Alberto
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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
errNEUROLOGY-GENETICS
IF3.7
err2022-12-01
err6
errOAAI
errBaviera-Munoz, Raquel; Carretero-Vilarroig, Lidon; Francisco Vazquez-Costa, Juan; Morata-Martinez, Carlos; Campins-Romeu, Marina; Muelas, Nuria; Sastre-Bataller, Isabel; Martinez-Torres, Irene; Perez-Garcia, Julia; Sivera, Rafael; Sevilla, Teresa; Vilchez, Juan J.; Jaijo, Teresa; Espinos, Carmen; Millan, Jose M.; Bataller, Luis; Aller, Elena
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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
errANNALS OF NEUROLOGY
IF7.7
err2022-09-07
err10
errOAAI
errPoyatos-Garcia, Javier; Marti, Pilar; Liquori, Alessandro; Muelas, Nuria; Pitarch, Inmaculada; Martinez-Dolz, Luis; Rodriguez, Benjamin; Gonzalez-Quereda, Lidia; Damia, Maria; Aller, Elena; Selva-Gimenez, Marta; Vilchez, Roger; Diaz-Manera, Jordi; Alonso-Perez, Jorge; Eulalio Barcena, Jose; Jauregui, Amaia; Gamez, Josep; Angel Aladren, Jesus; Fernandez, Ariadna; Montolio, Marisol; Azorin, Inmaculada; Hervas, David; Casasus, Ana; Nieto, Marisa; Gallano, Pia; Sevilla, Teresa; Jesus Vilchez, Juan
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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes
errSCIENTIFIC REPORTS
IF3.9
err2022-01-07
err8
errOAAI
errRodriguez-Munoz, Ana; Liguori, Alessandro; Garcia-Bohorguez, Beien; Jaijo, Teresa; Aller, Elena; Millan, Jose M.; Garcia-Garcia, Gema
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err收藏
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations
errJOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
err2021-10-01
err6
PREAI
errBaviera-Munoz, Raquel; Campins-Romeu, Marina; Carretero-Vilarroig, Lidon; Sastre-Bataller, Isabel; Martinez-Torres, Irene; Vazquez-Costa, Juan F.; Muelas, Nuria; Sevilla, Teresa; Vilchez, Juan J.; Aller, Elena; Jaijo, Teresa; Bataller, Luis; Espinos, Carmen
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Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
errJOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
err2020-04-01
err34
errOAAI
errRodriguez-Munoz, Ana; Aller, Elena; Jaijo, Teresa; Gonzalez-Garcia, Emilio; Cabrera-Peset, Ana; Gallego-Pinazo, Roberto; Udaondo, Patricia; Salom, David; Garcia-Garcia, Gema; Millan, Jose M.
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Expanding the Genetic Landscape of Usher-Like Phenotypes
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2019-11-14
err10
errOAAI
errFuster-Garcia, Carla; Garcia-Garcia, Gema; Jaijo, Teresa; Blanco-Kelly, Fiona; Tian, Lifeng; Hakonarson, Hakon; Ayuso, Carmen; Aller, Elena; Millan, Jose M.
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Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B
errHUMAN MUTATION
IF3.7
err2019-11-06
err7
errOAAI
errPalencia-Campos, Adrian; Martinez-Fernandez, Maria-Luisa; Altunoglu, Umut; Soto-Bielicka, Patricia; Torres, Antonio; Marin, Purificacion; Aller, Elena; Senturk, Leyli; Berkoz, Omer; Yildiran, Mehmet; Kayserili, Hulya; Gil-Camarero, Elena; Colli-Lista, Gloria; Sanchis-Calvo, Amparo; Carretero, Alba; Guillen-Navarro, Encarna; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Maria; Rosell, Jordi; Aglan, Mona S.; Temtamy, Samia; Otaify, Ghada A.; Cuevas-Catalina, Lourdes; Torres-Saavedra, Maria-Nieves; Nevado, Julian; Tenorio, Jair; Lapunzina, Pablo; Bermejo-Sanchez, Eva; Ruiz-Perez, Victor L.; Arroyo-Carrera, Ignacio; Barcia-Ramirez, Ana; Beseler-Soto, Beatriz; Bringue-Espuny, Xavier; Canduela-Martinez, Victor; Climent-Alberola, Salvador; Escribano-Garcia, Carla; Eunide Gourdet, Marie; Foguet-Vidal, Anton; Gallardo-Hernandez, Francisca L.; Jimenez-Ignacio, Francisca; Madero-Lopez, Julian; Marugan-Isabel, Victor; Pangua-Gomez, Maria; Pi-Castan, Graciela; Reyes-Millan, Beatriz; Ruperez-Pena, Sara M.; Zuazo-Zamalloa, Esther
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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
errSCIENTIFIC REPORTS
IF3.9
err2018-11-20
err36
errOAAI
errFuster-Garcia, Carla; Garcia-Garcia, Gema; Jaijo, Teresa; Fornes, Neus; Ayuso, Carmen; Fernandez-Burriel, Miguel; Sanchez-De la Morena, Ana; Aller, Elena; Millan, Jose M.
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USH2A Gene Editing Using the CRISPR System
errMOLECULAR THERAPY-NUCLEIC ACIDS
IF0
err2017-09-01
err59
errOAAI
errFuster-Garcia, Carla; Garcia-Garcia, Gema; Gonzalez-Romero, Elisa; Jaijo, Teresa; Sequedo, Maria D.; Ayuso, Carmen; Vazquez-Manrique, Rafael P.; Millan, Jose M.; Aller, Elena
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Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa (vol 6, 19531, 2016)
errSCIENTIFIC REPORTS
IF3.9
err2016-04-22
err0
errOAAI
errPerez-Carro, Raquel; Corton, Marta; Sanchez-Navarro, Iker; Zurita, Olga; Sanchez-Bolivar, Noelia; Sanchez-Alcudia, Rocio; Lelieveld, Stefan H.; Aller, Elena; Angel Lopez-Martinez, Miguel; Isabel Lopez-Molina, Ma; Fernandez-San Jose, Patricia; Blanco-Kelly, Fiona; Riveiro-Alvarez, Rosa; Gilissen, Christian; Millan, Jose M.; Avila-Fernandez, Almudena; Ayuso, Carmen
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研究方向

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合作学者
合作期刊
H
Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
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F
Frans P.M. Cremers
H 指数: 92 · 论文数: 500
C
Christian Gilissen
H 指数: 87 · 论文数: 543
C
Carmén Nájera
H 指数: 77 · 论文数: 945
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