| Data | Título | Autor(es) | Tipo | Acesso |
| 2012 | Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients | Barbosa, Mafalda Fernanda Cabral Santos; Lopes, A.; Mota, C., et al. | Artigo | Acesso restrito UMinho |
| Nov-2013 | Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients | Santen, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T., et al. | Artigo | Acesso restrito UMinho |
| 5-Jul-2019 | Genomic imbalances defining novel intellectual disability associated loci | Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al. | Artigo | Acesso aberto |
| 9-Fev-2016 | Identification of novel genetic causes of Rett syndrome-like phenotypes | Lopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al. | Artigo | Acesso aberto |
| 2018 | Identification of rare de novo epigenetic variations in congenital disorders | Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al. | Artigo | Acesso aberto |
| Abr-2011 | Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene | Barbosa, Mafalda Fernanda Cabral Santos; Henrique, Martinha; Pinto-Basto, Jorge, et al. | Carta ao editor | Acesso restrito UMinho |
| 2016 | Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications | Torres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P. | Artigo | Acesso aberto |
| 10-Nov-2015 | Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene | Vieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva, et al. | Artigo | Acesso aberto |
