| An overview of molecular basis of iron metabolism regulation and the associated pathologies B Silva, P Faustino Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (7 …, 2015 | 338 | 2015 |
| Epidemiology of haemoglobin disorders in Europe: an overview B Modell, M Darlison, H Birgens, H Cario, P Faustino, PC Giordano, ... Scandinavian journal of clinical and laboratory investigation 67 (1), 39-70, 2007 | 234 | 2007 |
| Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ... Nature genetics 43 (4), 295-301, 2011 | 184 | 2011 |
| Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay A Inácio, AL Silva, J Pinto, X Ji, A Morgado, F Almeida, P Faustino, ... Journal of Biological Chemistry 279 (31), 32170-32180, 2004 | 177 | 2004 |
| Nonsense mutations in the human β-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation L Romao, Â Inácio, S Santos, M Avila, P Faustino, P Pacheco, J Lavinha Blood, The Journal of the American Society of Hematology 96 (8), 2895-2901, 2000 | 119 | 2000 |
| Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia S Mettananda, CA Fisher, D Hay, M Badat, L Quek, K Clark, P Hublitz, ... Nature communications 8 (1), 424, 2017 | 104 | 2017 |
| Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation ÂC Crespo, B Silva, L Marques, E Marcelino, C Maruta, S Costa, ... Neurobiology of aging 35 (4), 777-785, 2014 | 83 | 2014 |
| Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population P Faustino, L Osório-Almeida, J Barbot, D Espírito-Santo, J Gonçalves, ... Human genetics 89, 573-576, 1992 | 68 | 1992 |
| The peopling of Sao Tome (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese G Tomás, L Seco, S Seixas, P Faustino, J Lavinha, J Rocha Human Biology, 397-411, 2002 | 62 | 2002 |
| Novel large deletions in the human α-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment A Coelho, I Picanço, F Seuanes, MT Seixas, P Faustino Blood Cells, Molecules, and Diseases 45 (2), 147-153, 2010 | 58 | 2010 |
| The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context AL Silva, FJC Pereira, A Morgado, J Kong, R Martins, P Faustino, ... Rna 12 (12), 2160-2170, 2006 | 56 | 2006 |
| The role of HFE mutations on iron metabolism in beta-thalassemia carriers R Martins, I Picanco, A Fonseca, L Ferreira, O Rodrigues, M Coelho, ... Journal of human genetics 49 (12), 651-655, 2004 | 53 | 2004 |
| Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes AI Mendes, A Ferro, R Martins, I Picanço, S Gomes, R Cerqueira, ... Annals of hematology 88, 229-234, 2009 | 47 | 2009 |
| Importation route of the sickle cell trait into Portugal: Contribution of molecular epidemiology J Lavinha, J Gonçalves, P Faustino, L Romão, L Osório-Almeida, ... Human biology, 891-901, 1992 | 40 | 1992 |
| Mutational spectrum of delta‐globin gene in the Portuguese population A Morgado, I Picanço, S Gomes, A Miranda, M Coucelo, F Seuanes, ... European journal of haematology 79 (5), 422-428, 2007 | 39 | 2007 |
| The geographic pattern of β‐thalassaemia mutations in the Portuguese population P Faustino, P Pacheco, P Loureiro, PJ Nogueira, J Lavinha British Journal of Haematology 107 (4), 903-904, 1999 | 34 | 1999 |
| Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers J Alves, P Machado, J Silva, N Gonçalves, L Ribeiro, P Faustino, ... Blood Cells, Molecules, and Diseases 44 (1), 62-68, 2010 | 33 | 2010 |
| Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity S David, V Correia, L Antunes, R Faria, J Ferrão, P Faustino, B Nunes, ... Immunogenetics 70, 169-177, 2018 | 27 | 2018 |
| beta-Thalassemia mutation at-90C--> T impairs the interaction of the proximal CACCC box with both erythroid and nonerythroid factors P Faustino, J Lavinha, MG Marini, P Moi | 25 | 1996 |
| Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population R Faria, B Silva, C Silva, P Loureiro, A Queiroz, S Fraga, J Esteves, ... Blood Cells, Molecules, and Diseases 61, 10-15, 2016 | 23 | 2016 |
