| Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond G de Valles-Ibáñez, A Esteve-Sole, M Piquer, EA González-Navarro, ... Frontiers in Immunology 9, 636, 2018 | 141 | 2018 |
| Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing L Batlle-Masó, A Mensa-Vilaró, M Solís-Moruno, T Marquès-Bonet, ... European journal of medical genetics 63 (5), 103920, 2020 | 17 | 2020 |
| Flow sorting enrichment and nanopore sequencing of chromosome 1 from a Chinese individual LFK Kuderna, M Solís-Moruno, L Batlle-Masó, E Julià, E Lizano, Ò Fornas, ... Frontiers in genetics 10, 497672, 2020 | 7 | 2020 |
| Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond. Front. Immunol. 9, 636 G de Valles-Ibáñez, A Esteve-Solé, M Piquer, EA Gonzalez-Navarro, ... | 7 | 2018 |
| FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis L Viñas-Giménez, N Padilla, L Batlle-Masó, F Casals, JG Rivière, ... Frontiers in immunology 11, 505647, 2020 | 6 | 2020 |
| Assessment of the gene mosaicism burden in blood and its implications for immune disorders M Solís-Moruno, A Mensa-Vilaró, L Batlle-Masó, I Lobón, N Bonet, ... Scientific reports 11 (1), 12940, 2021 | 5 | 2021 |
| Somatic genetic variation in healthy tissue and non-cancer diseases M Solís-Moruno, L Batlle-Masó, N Bonet, JI Aróstegui, F Casals European Journal of Human Genetics 31 (1), 48-54, 2023 | 3 | 2023 |
| Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report C Franco-Jarava, I Valenzuela, JG Riviere, M Garcia-Prat, ... Frontiers in Immunology 13, 897975, 2022 | 3 | 2022 |
| Molecular challenges in the diagnosis of X-linked chronic granulomatous disease: CNVs, intronic variants, skewed X-chromosome inactivation, and gonosomal mosaicism L Batlle-Masó, JG Rivière, C Franco-Jarava, A Martín-Nalda, ... Journal of Clinical Immunology 43 (8), 1953-1963, 2023 | 1 | 2023 |
| Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications L Batlle-Masó, M Garcia-Prat, A Parra-Martínez, C Franco-Jarava, ... Frontiers in immunology 13, 1014984, 2022 | 1 | 2022 |
| OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers L Batlle-Masó, M Antolin, J Marques-Soares, R Dieli-Crimi, R Colobran Journal of Clinical Immunology 44 (4), 95, 2024 | | 2024 |
| Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency M Garcia-Prat, L Batlle-Masó, A Parra-Martínez, C Franco-Jarava, ... Journal of Clinical Immunology 44 (2), 1-12, 2024 | | 2024 |
| Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: diagnostic implications L Batlle-Maso, M Garcia-Prat, A Parra-Martinez, C Franco-Jarava, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 441-441, 2024 | | 2024 |
| Somatic revertant mosaicism correlating with clinical improvement in a patient with TNFRSF9 (CD137) deficiency R Colobran, M Garcia-Prat, A Parra-Martinez, C Franco-Jarava, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 441-442, 2024 | | 2024 |
| Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome L Batlle-Masó, M Garcia-Prat, A Parra-Martínez, C Franco-Jarava, ... | | 2022 |
| Genomics of immune disease: exploring the genetic mechanisms underlying primary immunodeficiencies L Batlle Masó | | 2021 |
| Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders M Solís-Moruno, A Mensa-Vilaró, L Batlle-Masó, I Lobón, N Bonet, ... Scientific reports 11, 2021 | | 2021 |
| Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual. Front. Genet. 10: 1315. doi: 10.3389/fgene LFK Kuderna, M Solís-Moruno, L Batlle-Masó, E Julià, E Lizano, ... 2019.01315, 2020 | | 2020 |
