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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 R Romero, L de la Fuente, M Del Pozo-Valero, R Riveiro-Álvarez, ... NPJ genomic medicine 7 (1), 7, 2022 | 6 | 2022 |
| Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases A Damián, G Núñez-Moreno, C Jubin, A Tamayo, MR De Alba, ... Human Genomics 17 (1), 45, 2023 | 5 | 2023 |
| Analysis of differentially expressed microRNAs in serum and lung tissues from individuals with severe asthma treated with oral glucocorticoids M Gil-Martínez, C Lorente-Sorolla, JM Rodrigo-Muñoz, MÁ Lendínez, ... International journal of molecular sciences 24 (2), 1611, 2023 | 5 | 2023 |
| Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies IF Iancu, I Perea-Romero, G Núñez-Moreno, L de la Fuente, R Romero, ... International Journal of Molecular Sciences 23 (15), 8431, 2022 | 5 | 2022 |
| Germline gain‐of‐function MMP11 variant results in an aggressive form of colorectal cancer L Martin‐Morales, S Manzano, M Rodrigo‐Faus, A Vicente‐Barrueco, ... International Journal of Cancer 152 (2), 283-297, 2023 | 3 | 2023 |
| Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia A Tamayo, G Núñez-Moreno, C Ruiz, J Plaisancie, A Damian, J Moya, ... International Journal of Molecular Sciences 24 (2), 1562, 2023 | 3 | 2023 |
| Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts A Damián, RO Ionescu, M Rodríguez de Alba, A Tamayo, ... International Journal of Molecular Sciences 22 (23), 12713, 2021 | 3 | 2021 |
| Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod-and cone-dominated dystrophies C Rodilla, I Martín-Merida, F Blanco-Kelly, MJ Trujillo-Tiebas, ... American Journal of Ophthalmology 254, 87-103, 2023 | 2 | 2023 |
| Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report F Martínez‐Granero, E Martínez‐Cayuelas, C Rodilla, G Núñez‐Moreno, ... Clinical Genetics 103 (4), 448-452, 2023 | 1 | 2023 |
| VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms using long-read sequencing G Núñez-Moreno, A Tamayo, C Ruiz-Sánchez, M Cortón, P Mínguez bioRxiv, 2022.03. 01.482488, 2022 | 1 | 2022 |
| Long-read sequencing for improving the characterization of rare inherited eye diseases C Rodilla, A Damian, G Nunez Moreno, I Perea-Romero, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 119-119, 2024 | | 2024 |
| Minigenes and long read sequencing for the analysis of splicing variants located in acceptor sites of the PAX6 gene C Ruiz-Sanchez, A Tamayo, G Nunez Moreno, C Rodilla, C Ayuso, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 122-123, 2024 | | 2024 |
| VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing G Nunez Moreno, A Tamayo, C Ruiz-Sanchez, M Corton, P Minguez EUROPEAN JOURNAL OF HUMAN GENETICS 32, 664-664, 2024 | | 2024 |
| Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report F Martinez-Granero, E Martinez-Cayuelas, C Rodilla, G Nunez Moreno, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 188-188, 2024 | | 2024 |
| PRPH2-related retinal dystrophies: mutational spectrum in Fundacion Jimenez Diaz University Hospital cohort L Fernandez-Caballero, I Martin Merida, F Blanco-Kelly, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 117-117, 2024 | | 2024 |
| Genomic landscape of 311 patients with ocular developmental diseases in Spain based on NGS data A Damian, MJ Trujillo Tiebas, F Blanco-Kelly, C Villaverde, R Romero, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 381-381, 2024 | | 2024 |
| Comparison of Extracellular Vesicle Isolation Methods for miRNA Sequencing M Llorens-Revull, B Martínez-González, J Quer, JI Esteban, ... International journal of molecular sciences 24 (15), 12183, 2023 | | 2023 |
| VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing G Núñez-Moreno, A Tamayo, C Ruiz-Sánchez, M Cortón, P Mínguez Human Genetics 142 (4), 495-506, 2023 | | 2023 |
| Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing G Núñez-Moreno, A Tamayo, C Ruiz-Sánchez, M Cortón, P Mínguez Human Genetics 142 (7), 995, 2023 | | 2023 |
