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| Ospina Cardona D, Rodriguez-Pinto I, Iosim S, et al. (2024) Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome. Rheumatology (Oxford, England) |
| Solís-Moruno M, Batlle-Masó L, Bonet N, et al. (2022) Somatic genetic variation in healthy tissue and non-cancer diseases. European Journal of Human Genetics : Ejhg |
| Moreno-Ruiz N, Lao O, Aróstegui JI, et al. (2022) Assessing the digenic model in rare disorders using population sequencing data. European Journal of Human Genetics : Ejhg |
| Lobon I, Solís-Moruno M, Juan D, et al. (2022) Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes. Frontiers in Aging. 3: 851039 |
| Solís-Moruno M, Mensa-Vilaró A, Batlle-Masó L, et al. (2021) Assessment of the gene mosaicism burden in blood and its implications for immune disorders. Scientific Reports. 11: 12940 |
| Barrio PA, García Ó, Phillips C, et al. (2020) The first GHEP-ISFG collaborative exercise on forensic applications of massively parallel sequencing. Forensic Science International. Genetics. 49: 102391 |
| Martín-Nalda A, Fortuny C, Rey L, et al. (2020) Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. Journal of Clinical Immunology |
| Batlle-Masó L, Mensa-Vilaró A, Solís-Moruno M, et al. (2020) Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing. European Journal of Medical Genetics. 103920 |
| Viñas-Giménez L, Padilla N, Batlle-Masó L, et al. (2020) FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis. Frontiers in Immunology. 11: 107 |
| Harding T, Milot E, Moreau C, et al. (2020) Historical human remains identification through maternal and paternal genetic signatures in a founder population with extensive genealogical record. American Journal of Physical Anthropology |