1. Ferreira Z, Seixas S, Andrés AM, Kretzschmar WW, Mullikin JC, Cherukuri PF, Cruz P, Swanson WJ, , Clark AG, Green ED, Hurle B

Reproduction and Immunity-Driven Natural Selection in the Human WFDC Locus. Molecular biology and evolution 30: 938-50, 2013.  [Article] 

 doi: 10.1093/molbev/mss329 PMID: 23292442.

 

2. Malik R, Dau T, Gonik M, Sivakumar A, Deredge DJ, Edeleva EV, Götzfried J, van der Laan SW, Pasterkamp G, Beaufort N, Seixas S, Bevan S, Lincz LF, Holliday EG, Burgess AI, Rannikmäe K, Minnerup J, Kriebel J, Waldenberger M, Müller-Nurasyid M, Lichtner P, Saleheen D, International Stroke Genetics Consortium D, Rothwell PM, Levi C, Attia J, Sudlow CL, Braun D, Markus HS, Wintrode PL, Berger K, Jenne DE, Dichgans M

Common coding variant in SERPINA1 increases the risk for large artery stroke. Proceedings of the National Academy of Sciences of the United States of America 114: 3613-3618, 2017.  [Article] 

 doi: 10.1073/pnas.1616301114 PMID: 28265093.

 

3. Pinheiro H, Bordeira-Carriço R, Seixas S, Carvalho J, Senz J, Oliveira P, Inácio P, Gusmão L, Rocha J, Huntsman D, Seruca R, Oliveira C

Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. Human molecular genetics 19: 943-52, 2010.  [Article] 

 doi: 10.1093/hmg/ddp537. PMID: 19965908.

 

4. Figueiredo J, Melo S, Gamet K, Godwin T, Seixas S, Sanches JM, Guilford P, Seruca R

E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer. Molecular cancer 17: 112, 2018.  [Article] 

 doi: 10.1186/s12943-018-0859-0 PMID: 30068367.

 

5. Seixas S, Suriano G, Carvalho F, Seruca R, Rocha J, Di Rienzo A

Sequence diversity at the proximal 14q32.1 SERPIN subcluster: evidence for natural selection favoring the pseudogenization of SERPINA2. Molecular biology and evolution 24: 587-98, 2007.  [Article] 

 doi: 10.1093/molbev/msl187 PMID: 17135331.

 

6. Marques PI, Fonseca F, Sousa T, Santos P, Camilo V, Ferreira Z, Quesada V, Seixas S

Adaptive Evolution Favoring KLK4 Downregulation in East Asians. Molecular biology and evolution 33: 93-108, 2016.  [Article] 

 doi: 10.1093/molbev/msv199 PMID: 26420451.

 

7. Ferreira Z, Hurle B, Rocha J, Seixas S

Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans. Molecular biology and evolution 28: 2811-22, 2011.  [Article] 

 doi: 10.1093/molbev/msr106 PMID: 21536719.

 

8. Seixas S, Ferrand N, Rocha J

Microsatellite variation and evolution of the human Duffy blood group polymorphism. Molecular biology and evolution 19: 1802-6, 2002.  [Letter] 

 PMID: 12270907.

 

9. Suriano G, Seixas S, Rocha J, Seruca R

A model to infer the pathogenic significance of CDH1 germline missense variants. Journal of molecular medicine (Berlin, Germany) 84: 1023-31, 2006.  [Article] 

 doi: 10.1007/s00109-006-0091-z PMID: 16924464.

 

10. Seixas S, Lopes AI, Rocha J, Silva L, Salgueiro C, Salazar-de-Sousa J, Batista A

Association between the defective Pro369Ser mutation and in vivo intrahepatic 1-antitrypsin accumulation. Journal of medical genetics 38: 472-4, 2001.  [Letter] 

 PMID: 11474657.

 

11. Marques PI, Fonseca F, Carvalho AS, Puente DA, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Azkargorta M, Elortza F, Osório H, Matthiesen R, Quesada V, Seixas S

Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes. Human reproduction (Oxford, England) 31: 2881-2891, 2016.  [Article] 

 doi: 10.1093/humrep/dew267 PMID: 27827323.

 

12. Marques PI, Bernardino R, Fernandes T, , Green ED, Hurle B, Quesada V, Seixas S

Birth-and-death of KLK3 and KLK2 in primates: evolution driven by reproductive biology. Genome biology and evolution 4: 1331-8, 2012.  [Article] 

 doi: 10.1093/gbe/evs111 PMID: 23204305.

 

13. Seabra CM, Quental S, Lima AC, Carvalho F, Gonçalves J, Fernandes S, Pereira I, Silva J, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Lopes AM

The Mutational Spectrum of WT1 in Male Infertility. The Journal of urology 193: 1709-15, 2015.  [Article] 

 doi: 10.1016/j.juro.2014.11.004 PMID: 25451826.

 

14. Moleirinho A, Seixas S, Lopes AM, Bento C, Prata MJ, Amorim A

Evolutionary Constraints in the ß-Globin Cluster: The Signature of Purifying Selection at the d-Globin (HBD) Locus and Its Role in Developmental Gene Regulation. Genome biology and evolution 5: 559-71, 2013.  [Article] 

 doi: 10.1093/gbe/evt029 PMID: 23431002.

 

15. Ferreira Z, Hurle B, Andrés AM, Kretzschmar WW, Mullikin JC, Cherukuri PF, Cruz P, Gonder MK, Stone AC, Tishkoff S, Swanson WJ, , Green ED, Clark AG, Seixas S

Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity. Genome biology and evolution 5: 2512-23, 2013.  [Article] 

 doi: 10.1093/gbe/evt198 PMID: 24356879.

 

16. Coelho M, Luiselli D, Bertorelle G, Lopes AI, Seixas S, Destro-Bisol G, Rocha J

Microsatellite variation and evolution of human lactase persistence. Human genetics 117: 329-39, 2005.  [Article] 

 doi: 10.1007/s00439-005-1322-z PMID: 15928901.

 

17. Carvalho AS, Cuco CM, Lavareda C, Miguel F, Ventura M, Almeida S, Pinto P, de Abreu TT, Rodrigues LV, Seixas S, Bárbara C, Azkargorta M, Elortza F, Semedo J, Field JK, Mota L, Matthiesen R

Bronchoalveolar Lavage Proteomics in Patients with Suspected Lung Cancer. Scientific reports 7: 42190, 2017.  [Article] 

 doi: 10.1038/srep42190 PMID: 28169345.

 

18. Vaz Rodrigues L, Costa F, Marques P, Mendonça C, Rocha J, Seixas S

Severe a-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history. Clinical genetics 81: 462-9, 2012.  [Article] 

 doi: 10.1111/j.1399-0004.2011.01670.x PMID: 21457231.

 

19. Valente C, Alvarez L, Marques PI, Gusmão L, Amorim A, Seixas S, João Prata M

Genes from the TAS1R and TAS2R Families of Taste Receptors: Looking for Signatures of Their Adaptive Role in Human Evolution. Genome biology and evolution 10: 1139-1152, 2018.  [Article] 

 doi: 10.1093/gbe/evy071 PMID: 29635333.

 

20. Seixas S, Ivanova N, Ferreira Z, Rocha J, Victor L. B

Loss and Gain of Function in SERPINB11: An Example of a Gene under Selection on Standing Variation, with Implications for Host-Pathogen Interactions
 PloS one  1, 2012.  [Article] 

 doi: 10.1371/journal.pone.0032518.

 

21. Seixas S, Garcia O, Amorim A, Rocha J

A novel alpha-1-antitrypsin r281del variant found in a population sample from the Basque country. Human mutation 15: 121-2, 2000.  [] 

 doi: 10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U PMID: 10612848.

 

22. Marques PI, Ferreira Z, Martins M, Figueiredo J, Silva DI, Castro P, Morales-Hojas R, Simões-Correia J, Seixas S

SERPINA2 Is a Novel Gene with a Divergent Function from SERPINA1. PloS one 8: e66889, 2013.  [Article] 

 doi: 10.1371/journal.pone.0066889 PMID: 23826168.

 

23. Gomes S, Marques PI, Matthiesen R, Seixas S

Adaptive evolution and divergence of SERPINB3: a young duplicate in great Apes. PloS one 9: e104935, 2014.  [Article] 

 doi: 10.1371/journal.pone.0104935 PMID: 25133778.

 

24. Silva D, Oliveira MJ, Guimarães M, Lima R, Gomes S, Seixas S

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal Respiratory Medicine 116: 8-118, 2016.  [Article] 

 doi: 10.1016/j.rmed.2016.05.002.

 

25. Seixas S, Garcia O, Trovoada MJ, Santos MT, Amorim A, Rocha J

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the alpha1-antitrypsin polymorphism. Human genetics 108: 20-30, 2001.  [Article] 

 PMID: 11214903.

 

26. Moleirinho A, Lopes AM, Seixas S, Morales-Hojas R, Prata MJ, Amorim A

Distinctive Patterns of Evolution of the d-Globin Gene (HBD) in Primates. PloS one 10: e0123365, 2015.  [Article] 

 doi: 10.1371/journal.pone.0123365 PMID: 25853817.

 

27. Pinheiro HC, Carrico R, Carvalho J, Oliveira P, Gusmao L, Seixas S, Rocha J, Huntsman D, Seruca R, Oliveira C

Allele-Specific CDH1 Downregulation Increases Susceptibility to Diffuse Gastric Cancer Helicobacter 14: 381-381, 2009.  [Meeting Abstract] 

.

 

28. Monteiro C, Marques PI, Cavadas B, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Gomes S, Seixas S

Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria. American journal of reproductive immunology (New York, N.Y. : 1989) 79: e12838, 2018.  [Article] 

 doi: 10.1111/aji.12838 PMID: 29500854.

 

29. Silva LM, Carvalho AS, Guillon P, Seixas S, Azevedo M, Almeida R, Ruvoën-Clouet N, Reis CA, Le Pendu J, Rocha J, David L

Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies. Glycoconjugate journal 27: 61-8, 2010.  [Article] 

 doi: 10.1007/s10719-009-9255-8 PMID: 19757028.

 

30. Meira L, Boaventura R, Seixas S, Sucena M

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population. COPD 15: 4-9, 2018.  [Article] 

 doi: 10.1080/15412555.2017.1414779 PMID: 29393705.

 

31. Lima AC, Carvalho F, Gonçalves J, Fernandes S, Marques PI, Sousa M, Barros A, Seixas S, Amorim A, Conrad DF, Lopes AM

Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. Andrology 3: 825-33, 2015.  [Article] 

 doi: 10.1111/andr.12063 PMID: 26139570.

 

32. Seixas S, Trovoada MJ, Santos MT, Rocha J

A novel alpha-1-antitrypsin P362H variant found in a population sample from S. Tomé e Príncipe (Gulf of Guinea, West Africa). Human mutation 13: 414, 1999.  [] 

.

 

33. Seixas S, Mendonça C, Costa F, Rocha J

alpha1-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. Clinical genetics 62: 175-80, 2002.  [Article] 

 PMID: 12220457.

 

34. Maia LF, Vasconcelos C, Seixas S, Magalhães R, Correia M

Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles. Cerebrovascular diseases (Basel, Switzerland) 22: 155-61, 2006.  [Article] 

 doi: 10.1159/000093245 PMID: 16691025.

 

35. Guerra A, Rego C, Castro EM, Seixas S, Rocha J

Influence of apolipoprotein e polymorphism on cardiovascular risk factors in obese children. Annals of nutrition & metabolism 47: 49-54, 2003.  [Article] 

 doi: 10.1159/000069275 PMID: 12652054.

 

36. 

Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele. Revista portuguesa de pneumologia  , 2015.  [Article - Epub ahead of print] 

 doi: 10.1016/j.rppnen.2015.07.002 PMID: 26281944.

 

37. Tomás G, Seco L, Seixas S, Faustino P, Lavinha J, Rocha J

The peopling of São Tomé (Gulf of Guinea): origins of slave settlers and admixture with the Portuguese. Human biology; an international record of research 74: 397-411, 2002.  [Article] 

 PMID: 12180763.

 

38. Gaspar P, Seixas S, Rocha J

Genetic variation in a compound short tandem repeat/Alu haplotype system at the SB19.3 locus: properties and interpretation. Human biology; an international record of research 76: 277-87, 2004.  [Article] 

 PMID: 15359536.

 

39. Seixas S, Trovoada MJ, Rocha J

Haplotype analysis of the apolipoprotein E and apolipoprotein C1 loci in Portugal and São Tomé e Príncipe (Gulf of Guinea): linkage disequilibrium evidence that APOE*4 is the ancestral APOE allele. Human biology; an international record of research 71: 1001-8, 1999.  [Article] 

 PMID: 10592690.

 

40. Seixas S

The Human SERPIN repertoire and the evolution of 14q32.1 and 18q21.3 gene clusters (book chapter) In: The Serpin Family. Proteins with multiple functions in Health and Disease The Serpin Family. Proteins with multiple functions in Health and Disease  1-14, 2015.  [] 

 doi: 10.1007/978-3-319-22711-5_1.