| Microsatellite variation and evolution of human lactase persistence M Coelho, D Luiselli, G Bertorelle, AI Lopes, S Seixas, G Destro-Bisol, ... Human genetics 117, 329-339, 2005 | 186 | 2005 |
| Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma S Gomes, B Cavadas, JC Ferreira, PI Marques, C Monteiro, M Sucena, ... Scientific reports 9 (1), 12838, 2019 | 120 | 2019 |
| Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer H Pinheiro, R Bordeira-Carrico, S Seixas, J Carvalho, J Senz, P Oliveira, ... Human molecular genetics 19 (5), 943-952, 2010 | 116 | 2010 |
| Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased … C Monteiro, PI Marques, B Cavadas, I Damião, V Almeida, N Barros, ... American journal of reproductive immunology 79 (6), e12838, 2018 | 104 | 2018 |
| A model to infer the pathogenic significance of CDH1 germline missense variants G Suriano, S Seixas, J Rocha, R Seruca Journal of molecular medicine 84, 1023-1031, 2006 | 88 | 2006 |
| Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum S Seixas, PI Marques The application of clinical genetics, 173-194, 2021 | 87 | 2021 |
| Patterns of haplotype diversity within the serpin gene cluster at 14q32. 1: insights into the natural history of the α1-antitrypsin polymorphism S Seixas, O Garcia, JM Trovoada, TM Santos, A Amorim, J Rocha Human genetics 108, 20-30, 2001 | 79 | 2001 |
| Alpha-1-antitrypsin (SERPINA1) mutation spectrum: three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal D Silva, MJ Oliveira, M Guimaraes, R Lima, S Gomes, S Seixas Respiratory Medicine 116, 8-18, 2016 | 72 | 2016 |
| A de novo paradigm for male infertility SE Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries ... Nat Commun. 13, 154, 2022 | 68 | 2022 |
| 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 | 65 | 2002 |
| Bronchoalveolar lavage proteomics in patients with suspected lung cancer AS Carvalho, CM Cuco, C Lavareda, F Miguel, M Ventura, S Almeida, ... Scientific reports 7 (1), 42190, 2017 | 52 | 2017 |
| Common coding variant in SERPINA1 increases the risk for large artery stroke R Malik, T Dau, M Gonik, A Sivakumar, DJ Deredge, EV Edeleva, ... Proceedings of the National Academy of Sciences 114 (14), 3613-3618, 2017 | 50 | 2017 |
| Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles LF Maia, C Vasconcelos, S Seixas, R Magalhães, M Correia Cerebrovascular diseases 22 (2-3), 155-161, 2006 | 47 | 2006 |
| Hereditary gastric and breast cancer syndromes related to CDH1 germline mutation: a multidisciplinary clinical review G Corso, G Montagna, J Figueiredo, C La Vecchia, U Fumagalli Romario, ... Cancers 12 (6), 1598, 2020 | 44 | 2020 |
| Portuguese consensus document for the management of alpha-1-antitrypsin deficiency AP Lopes, MA Mineiro, F Costa, J Gomes, C Santos, C Antunes, D Maia, ... Pulmonology 24, 1-21, 2018 | 43 | 2018 |
| Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children A Guerra, C Rego, EMB Castro, S Seixas, J Rocha Annals of nutrition and metabolism 47 (2), 49-54, 2003 | 43 | 2003 |
| α1‐Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→ A transition in position+ 1 of intron IC affecting normal mRNA splicing S Seixas, C Mendonça, F Costa, J Rocha Clinical genetics 62 (2), 175-180, 2002 | 41 | 2002 |
| Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and Sao Tome e Principe (Gulf of Guinea): linkage disequilibrium evidence that APOE* 4 is the … S Seixas, MJ Trovoada, J Rocha Human biology, 1001-1008, 1999 | 39 | 1999 |
| Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies LM Silva, AS Carvalho, P Guillon, S Seixas, M Azevedo, R Almeida, ... Glycoconjugate journal 27, 61-68, 2010 | 38 | 2010 |
| Microsatellite variation and evolution of the human Duffy blood group polymorphism S Seixas, N Ferrand, J Rocha Molecular biology and evolution 19 (10), 1802-1806, 2002 | 35 | 2002 |
Willie J SwansonProfessor of Genome Sciences, University of WashingtonVerified email at uw.edu