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Susana Seixas is an alpha1-antitrypsin (SERPINA1) expert with a solid training in Population and Evolutionary Genetics. She completed her PhD in Biological Sciences in 2003 (U. Porto) and currently holds a Researcher position at the Genetics Diversity group at i3S. As part of her postdoctoral experience Susana was mentored by Prof. Anna Di Rienzo (Department of Human Genetics, U. Chicago, IL, USA), gaining important knowhow in theoretical sciences and bioinformatics. Since then, Susana led 2 highly competitive national grants, and attracted funds from additional sources for 3 other projects. Susana supervised so far 9 students at different stages of their careers, 3 benefiting from international collaborations (2 PhD and 1 MSc). Over the last 15 years, Susana research activities focused mainly on SERPINA1 and in other proteolysis-related genes, their evolution, variation and contribution to different adaptive traits and disease phenotypes. Other duties included the collaboration with IPATIMUP Diagnostics, where she heads the genotyping service of alpha-1-antitrypsin deficiency (AATD). Susana is also a member of the Frontiers Genetics editorial board (Associated Editor), peer-reviewed more than 40 manuscripts for diverse journals and participated in the evaluation committees of 1 PhD and 5 MSc thesis and of 2 ESHG conferences (abstract assessor). Susana published more than 50 papers in international journals and a Springer book chapter by editor's invitation. She received 3 awards during her professional career and interacted with more than 350 collaborators in (co)authorship.
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Identification

Personal identification

Full name
Susana Seixas

Citation names

  • Seixas, Susana

Author identifiers

Ciência ID
5214-FBFC-F01F
ORCID iD
0000-0002-7035-7422
Scopus Author Id
6602992150

Email addresses

  • sseixas@ipatimup.pt (Professional)

Telephones

Telephone
  • 220408806 (Professional)

Addresses

  • i3S. Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Evolutionary Biology
  • Natural sciences - Biological Sciences - Molecular Biology
  • Medical and Health Sciences - Clinical Medicine - Respiratory Systems
  • Medical and Health Sciences - Other Medical Sciences - Other Medical Sciences
  • Natural sciences - Biological Sciences - Reproductive Biology

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Elementary (A2) Intermediate (B1) Beginner (A1) Intermediate (B1)
Portuguese (Mother tongue)
Education
Degree Classification
2003/01/10
Concluded
 Biology (Doutoramento)
Universidade do Porto Faculdade de Ciências, Portugal
"Analysis of the patterns of genetic diversity in regions functionally relevant from the Human Genome: apolipoprotein E (APOE); alpha-1-antitrypsin (PI) and Duffy blood group (FY). " (THESIS/DISSERTATION)
 Approved by unanimity
1997/12/09
Concluded
 Master in Applied Human Genetics (Mestrado)
Universidade do Porto Faculdade de Ciências, Portugal
"Characterization of Apolipoprotein E (APOE) polymorphism: Study, comparison and improvement of phenotyping techniques – Analysis of the genetic variation in Northern Portugal." (THESIS/DISSERTATION)
 Very Good
1995/09/24
Concluded
 Biology (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Study of the influence of the nitrogen nutrition and floral stalk removal in the potato plant (Solanum tuberosum L.) " (THESIS/DISSERTATION)
 15/20
Affiliation

Science

Category
Host institution 		Employer
2019/01/01 - Current Researcher (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
(...)
2016/06/02 - 2018/12/31 Auxiliary Researcher (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
(...)
2015/07/11 - 2016/05/31 Postdoc (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
(...)
2013/05/01 - 2015/06/30 Auxiliary Researcher (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2013/05/01 - 2015/06/30 Auxiliary Researcher (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2008/05/01 - 2013/04/30 Auxiliary Researcher (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Others

Category
Host institution 		Employer
2007/07/01 - 2008/04/30 Post-Doctoral Scholarship (FCT Grant: BPD/34028/2006) Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
(...)
2003/10/01 - 2006/09/30 Post-Doctoral Scholarship (FCT Grant: BPD/12532/2003) Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
(...)
1998/10/01 - 2002/12/31 PhD Student Scholarship (FCT Grant: BD/13865/97) Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
(...)
1995/11/01 - 1997/12/31 Master Student Scholarship (FCT Grant: BM/6727/95) Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Faculdade de Ciências, Portugal
Projects

Grant

Designation Funders
2017 - 2022 Understanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach
SFRH/BPD/120777/2016
Supervisor
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universitat de Barcelona Facultat de Medicina, Spain
Fundação para a Ciência e a Tecnologia
Cancelled
2012 - 2017 ADDRESSING CO-EVOLUTION AND NEW PROTEIN-PROTEIN INTERACTIONS AMONG SERPINB3/B4 AND PROTEASES
SFRH/BPD/77646/2011
Other
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Cancelled
2011 - 2016 AN EVOLUTIONARY PERSPECTIVE INTO THE ROLE OF KALLIKREINS (KLKS) IN MALE REPRODUCTIVE BIOLOGY
SFRH/BD/68940/2010
Supervisor
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Universidad de Oviedo Departamento de Bioquímica y Biología Molecular, Spain
Fundação para a Ciência e a Tecnologia
Concluded
2009 - 2013 THE HUMAN WHEY-ACIDIC-PROTEIN FOUR-DISULFIDE CORE-DOMAIN (WFDC) CLUSTER ON 20Q13 REGION: EVOLUTIONARY HISTORY AND ROLE IN HUMAN HEALTH AND DISEASE
SFRH/BD/45907/2008
Supervisor
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

National Human Genome Research Institute, United States
Fundação para a Ciência e a Tecnologia
Concluded
2007 - 2008 SEARCHING FOR SIGNATURES OF NATURAL SELECTION IN THE PROTEOLYSIS UNIVERSE: THE CASE STUDY OF SERINE PROTEASE INHIBITORS (SERPINS)
SFRH/BPD/34028/2006
Post-doc Fellow
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

University of Chicago Department of Human Genetics, United States
Fundação para a Ciência e a Tecnologia
Cancelled
2003 - 2006 Analysis of the organization and distribution of the DNA sequence variation in the serpin gene subcluster located at 14q32.1
SFRH/BPD/12532/2003
Post-doc Fellow
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

University of Chicago Department of Human Genetics, United States
Fundação para a Ciência e a Tecnologia
Concluded
1998 - 2002 Analysis of the organization of genetic diversity in two families of human genes: protease inhibitors (chromosome 14) and apolipoproteins (chromosome 19)
BD/13865/97
PhD Student Fellow
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded

Contract

Designation Funders
2023/03/12 - Current Evolution and functional activity of gene paralogues in spinocerebellar ataxias
2022.04896.PTDC
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2024/01/01 - 2024/12/31 Host-microbe interactions in Chronic Obstructive Pulmonary Disease – insights from alpha1-antitrypsin deficiency patients
Not available
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Universidade do Porto Instituto de Patologia e Imunologia Molecular
2021/09/01 - 2024/08/31 Molecular characterization of the subclinical entities of male infertility
PID2020-120157RB-I00
Researcher
Universidad de Granada, Spain
 España Ministerio de Ciencia e Innovación
Ongoing
2021/03/29 - 2024/03/28 Estimativas de risco ao longo da vida e modificadores genéticos em Cancro Gástrico Difuso Hereditário
10.54499/PTDC/BTM-TEC/6706/2020
PTDC/BTM-TEC/6706/2020
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2020 - 2023 The complex interactions between the pulmonary extracellular matrix and the lung microbiome in cancer evolution: a road to personalized medicine and early diagnosis?
Not applicable
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Universidade do Porto Instituto de Patologia e Imunologia Molecular
Ongoing
2018 - 2020 Prospective Study of Alpha-1-Antitrypsin Deficiency
Not applicable
Principal investigator
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Sociedade Portuguesa de Pneumologia
Concluded
2016 - 2020 An association study of male infertility centered in hyperviscosity and asthenozoospermia
Not applicable
Principal investigator
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Universidade do Porto Instituto de Patologia e Imunologia Molecular
Concluded
2014/03/01 - 2015/06/30 Identificação global por Espectrometria de Massa de aspirados bronquiais: visando modificações específicas do cancro do pulmão.
EXPL/DTP-PIC/0616/2013
Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2014 - 2015 Global MS-based profiling of bronchial aspirate: targeting lung cancer specific modifications
EXPL/DTP-PIC/0616/2013
Researcher
Universidade de Lisboa Faculdade de Ciências, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Fundação para a Ciência e a Tecnologia
2013 - 2015 Evaluating the role of proteolysis in the male reproductive system through the study of KLK (19q13.4) and WFDC (20q13) gene clusters.
PTDC/BEX-GMG/0242/2012
Principal investigator
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2011/01/01 - 2012/12/31 Projecto Estratégico - LA 3 - 2011-2012
PEst-C/SAU/LA0003/2011
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2011 - 2012 Evaluating the role of proteolysis in the male reproductive system through the study of KLK (19q13.4) and WFDC (20q13) gene clusters
Not applicable
Principal investigator
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Universidade do Porto Instituto de Patologia e Imunologia Molecular
Concluded
2008 - 2011 On the edge of the Bantu expansions: inferring recent African population history with independently evolving haplotypic systems
PTDC/BIA-BDE/68999/2006
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2008 - 2011 Understanding the genetic architecture and evolution of human pigmentary traits: Admixture mapping studies in Cape Verde
PTDC/BIA-BDE/64044/2006
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2007 - 2011 Looking for evidences of human adaptation in the proteolysis universe: the case-study of serine protease inhibitors
PTDC/SAU-GMG/64043/2006
Principal investigator
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2005 - 2007 Bio-cultural adaptation: human evolutionary responses to major changes in subsistence economy
POCI/BIA-BDE/56654/2004
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2003 - 2006 Anthropogenetics of São Tomé e Príncipe Archipelago: a case study on human microevolution
POCTI/ANT/42510/2001
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2016 - 2018 Advancing cancer research: from basic knowledge to application
NORTE-01-0145-FEDER-000029
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2013 - 2016 Differentiation in cancer with emphasis on glycoproteome alterations
NORTE-07-0124-FEDER-000024)
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2001 - 2004 Smoking habits and Alpha1-antitrypsin deficiency: study of Portuguese situation in the way for preventing the consequences of the disease
Not applicable
Researcher
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
 Direcção-Geral da Saúde
Concluded
Outputs

Publications

Book
  1. Seixas, S.. The human SERPIN repertoire and the evolution of 14q32.1 and 18q21.3 gene clusters. 2015.
    10.1007/978-3-319-22711-5_1
Conference abstract
  1. Felício, Daniela; Martins, Maria Inês; Pinto, Andreia; Costa, Inês P D; Amorim, Antonio; Lopes, Alexandra; Seixas, Susana; Martins, Sandra. "Evolutionary history and gene expression of ataxin-3 paralogs". Paper presented in 27th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana), Lisbon, 2024.
    Accepted
  2. Beatriz Martins; Filipa Torres Silva; Luciana Oliveira; Andreia Pinto; Susana Lopes; Sarah Dias; Seixas, Susana; Amorim, Adelina. "DISCINESIA CILIAR PRIMÁRIA: UMA MARCHA DIAGNÓSTICA COMPLEXA (PRIMARY CILIARY DYSINESIA: A COMPLEX DIAGNOSTIC WALK)". Paper presented in XXX Congresso de Pneumologia do Norte, Porto, 2023.
    Published
  3. Chorostowska-Wynimko, J; Balduyck, M; Carroll, T P; Greulich, T; Mcelvaney, N G; Miravitlles, M; Rodriguez-Frias, F; et al. "The effect of COVID-19 pandemics on the comprehensive laboratory diagnostic of alpha-1 antitrypsin deficiency in Europe - report from the AATD LABNet". 2022.
    10.1183/13993003.congress-2022.3464
  4. Chorostowska-Wynimko, J; Belmonte, I; Balduyck, M; Carroll, T P; Greulich, T; Mcelvaney, N G; Miravitlles, M; et al. "Alpha-1 Antitrypsin Deficiency Laboratory Testing-External Quality Assessment Program AATD LABNet 2019-2021". 2022.
    10.1183/13993003.congress-2022.3430
  5. Ferrarotti, Ilaria; Belmonte, Irene; Balduyck, Malika; Carroll, Tomàs P; Corsico, Angelo G; Greulich, Timm; Mcelvaney, Noel G; et al. "External quality assessment (EQA) for laboratory diagnosis of alpha1-antitrypsin deficiency (AATD) – Program driven by the European Alpha-1-Research Collaboration (EARCO) network". 2021.
    10.1183/13993003.congress-2021.pa2400
  6. Gonçalves, J C; Vaz Rodrigues, L; Marques, P I; Seixas, S. "Unravelling the genetic landscape of early-onset emphysema by whole exome sequencing". 2020.
    10.1183/23120541.lsc-2020.71
  7. Gomes, Sílvia; Cavadas, Bruno; Ferreira, Joana; Marques, Patrícia; Monteiro, Catarina; Sucena, Maria; Sousa, Catarina; et al. "Microbiota profile of Non-small Cell Lung Cancer (NSCLC): the study of a large cohort". 2019.
    10.1183/23120541.lungscienceconference-2019.pp101
Conference paper
  1. Lopes, AM; Nagirnaja, Liina; Carvalho, Filipa; Gonçalves, J.; Fernandes, Susana; Almstrup, K; Rajpert-De Meyts, E; et al. "Contribution of rare cryptic deletions to severe spermatogenic impairment ¿ insights from a large cohort of azoospermic men (GEMINI)". Paper presented in 23rd SPGH meetinig - Portuguese Society of Human Genetics, 2019.
  2. Lopes, Alexandra; Nagirnaja, Liina; Filipa, Carvalho; Gonçalves, João; Fernades, Susana; Pereira-Caetano, Iris; Almstrup, Kristian; et al. "Assessing the impact of Copy Number Variation on severe spermatogenic impairment with exome data". 2018.
Conference poster
  1. Fonseca, João; Rita Barbosa-Matos; Garrido, Luzia; Ana Mamede; Renata Oliveira; Parente Freixo, João; Louro, Pedro; et al. "Clinical Databases and Extended Family Pedigrees: The Missing Tool For Intrafamilial Risk Estimation Analysis". Paper presented in European Society of Human Genetics Conference, 2023.
Journal article
  1. Cerván-Martín, Miriam; González-Muñoz, Sara; Guzmán-Jiménez, Andrea; Higueras-Serrano, Inmaculada; Castilla, José A; Garrido, Nicolás; Luján, Saturnino; et al. "Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure". Human Reproduction (2024): http://dx.doi.org/10.1093/humrep/deae007.
    10.1093/humrep/deae007
  2. Ana Sara Gonçalves; João Carvalho; Cláudia Sousa; Susana Seixas; Vítor Teixeira. "Alpha-1 antitrypsin deficiency in Madeira Island: The first null variant and the contribution of deficient genotypes". Pulmonology (2023): https://doi.org/10.1016/j.pulmoe.2023.08.005.
    10.1016/j.pulmoe.2023.08.005
  3. M.J.V. Silva; S. Seixas; M.J. Canotilho; S. Feijó. "Alpha-1-antitrypsin deficiency caused by a PI*ZQ0Leiria genotype- the importance of diagnosis algorithms". Pulmonology (2023): https://doi.org/10.1016/j.pulmoe.2022.07.012.
    10.1016/j.pulmoe.2022.07.012
  4. Guzmán-Jiménez, Andrea; González-Muñoz, Sara; Cerván-Martín, Miriam; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Santos-Ribeiro, Samuel; et al. "Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia". Frontiers in Cell and Developmental Biology 10 (2022): http://dx.doi.org/10.3389/fcell.2022.1089782.
    10.3389/fcell.2022.1089782
  5. Cerván-Martín, Miriam; Tüttelmann, Frank; Lopes, Alexandra M.; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; et al. "Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility". Communications Biology 5 1 (2022): http://dx.doi.org/10.1038/s42003-022-04192-0.
    10.1038/s42003-022-04192-0
  6. Cerván-Martín, Miriam; Bossini-Castillo, Lara; Guzmán-Jiménez, Andrea; Rivera-Egea, Rocío; Garrido, Nicolás; Lujan, Saturnino; Romeu, Gema; et al. "Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility". Andrology 10 7 (2022): 1339-1350. http://dx.doi.org/10.1111/andr.13221.
    10.1111/andr.13221
  7. Miriam Cerván-Martín; Lara Bossini-Castillo; Andrea Guzmán-Jimenez; Rocío Rivera-Egea; Nicolás Garrido; Saturnino Luján; Gema Romeu; et al. "Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome". Journal of Personalized Medicine (2022): https://www.mdpi.com/2075-4426/12/6/932.
    10.3390/jpm12060932
  8. Oud, M.S.; Smits, R.M.; Smith, H.E.; Mastrorosa, F.K.; Holt, G.S.; Houston, B.J.; de Vries, P.F.; et al. "A de novo paradigm for male infertility". Nature Communications 13 1 (2022): http://www.scopus.com/inward/record.url?eid=2-s2.0-85122860866&partnerID=MN8TOARS.
    10.1038/s41467-021-27132-8
  9. Rita Barbosa-Matos; Rafaela Leal Silva; Luzia Garrido; Ana Cerqueira Aguiar; José Garcia-Pelaez; Ana André; Susana Seixas; et al. "The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing". Cancers (2021): https://doi.org/10.3390/cancers13174464.
    10.3390/cancers13174464
  10. Seixas, Susana; Kolbe, Allison R.; Gomes, Sílvia; Sucena, Maria; Sousa, Catarina; Vaz Rodrigues, Luís; Teixeira, Gilberto; et al. "Comparative analysis of the bronchoalveolar microbiome in Portuguese patients with different chronic lung disorders". Scientific Reports 11 1 (2021): http://dx.doi.org/10.1038/s41598-021-94468-y.
    Open access • Published • 10.1038/s41598-021-94468-y
  11. Cerván-Martín, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; et al. "Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort". Andrology (2021): http://dx.doi.org/10.1111/andr.13009.
    10.1111/andr.13009
  12. Giovanni Corso; Federica Corso; Federica Bellerba; Patrícia Carneiro; Susana Seixas; Antonio Cioffi; Carlo La Vecchia; et al. "Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review". Cancers 13 6 (2021): 1269-1269. https://doi.org/10.3390/cancers13061269.
    10.3390/cancers13061269
  13. Susana Seixas; Patricia Isabel Marques. "Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum". The Application of Clinical Genetics (2021): https://doi.org/10.2147/TACG.S257511.
    10.2147/TACG.S257511
  14. Hardy, J.J.; Wyrwoll, M.J.; Mcfadden, W.; Malcher, A.; Rotte, N.; Pollock, N.C.; Munyoki, S.; et al. "Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure". Human Genetics 140 8 (2021): 1169-1182. http://www.scopus.com/inward/record.url?eid=2-s2.0-85105426534&partnerID=MN8TOARS.
    10.1007/s00439-021-02287-y
  15. Cerván-Martín, Miriam; Bossini-Castillo, Lara; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; et al. "Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment". Journal of Personalized Medicine 11 1 (2020): 22. http://dx.doi.org/10.3390/jpm11010022.
    10.3390/jpm11010022
  16. Carvalho AS; Maria Carolina Strano Moraes; Chan Hyun Na; Ivo Fierro-Monti; Andreia Almeida Henriques; Sara Zahedi; Cristian Bodo; et al. "Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer?". Cancers (2020): https://www.mdpi.com/2072-6694/12/11/3450.
    10.3390/cancers12113450
  17. Cerván-Martín, Miriam; Suazo-Sánchez, M. Irene; Rivera-Egea, Rocío; Garrido, Nicolás; Luján, Saturnino; Romeu, Gema; Santos-Ribeiro, Samuel; et al. "Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment". Fertility and Sterility 114 2 (2020): 398-406. http://dx.doi.org/10.1016/j.fertnstert.2020.02.115.
    10.1016/j.fertnstert.2020.02.115
  18. Giovanni Corso; Giacomo Montagna; Joana Figueiredo; Carlo La Vecchia; Uberto Fumagalli Romario; Maria Sofia Fernandes; Susana Seixas; et al. "Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review". Cancers (2020): https://doi.org/10.3390/cancers12061598.
    10.3390/cancers12061598
  19. Sousa, C.S.; Teixeira, V.; Pereira, V.; Pinheiro, R.B.; Seixas, S.; Martins, N.. "A rare case of pulmonary disease combining alpha-1-antitrypsin deficiency and common variable immunodeficiency". Pulmonology 26 6 (2020): 406-409. http://www.scopus.com/inward/record.url?eid=2-s2.0-85086513515&partnerID=MN8TOARS.
    10.1016/j.pulmoe.2020.04.016
  20. Lopes-Marques, M.; Serrano, C.; Cardoso, A.R.; Salazar, R.; Seixas, S.; Amorim, A.; Azevedo, L.; Prata, M.J.. "GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution". Scientific Reports 10 1 (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85087991207&partnerID=MN8TOARS.
    10.1038/s41598-020-68106-y
  21. Esteves Brandão, M.; Conde, B.; Seixas, S.; Clotilde Silva, J.; Fernandes, A.. "Pulmonary Emphysema in a Child With Alpha-1 Antitrypsin Deficiency: Evaluation of 2 Years of Intravenous Augmentation Therapy,Enfisema pulmonar en un niño con deficiencia de alfa 1 antitripsina: evaluación tras dos años con terapia de aumento". Archivos de Bronconeumologia (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85062605074&partnerID=MN8TOARS.
    10.1016/j.arbres.2019.01.009
  22. Gomes, S.; Cavadas, B.; Ferreira, J.C.; Marques, P.I.; Monteiro, C.; Sucena, M.; Sousa, C.; et al. "Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma". Scientific Reports 9 1 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85071896383&partnerID=MN8TOARS.
    10.1038/s41598-019-49195-w
  23. Marques, P.I.; Gonçalves, J.C.; Monteiro, C.; Cavadas, B.; Nagirnaja, L.; Barros, N.; Barros, A.; et al. "Semen quality is affected by HLA class I alleles together with sexually transmitted diseases". Andrology (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85064665585&partnerID=MN8TOARS.
    10.1111/andr.12625
  24. Meira, L.; Boaventura, R.; Seixas, S.; Sucena, M.. "Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population". COPD: Journal of Chronic Obstructive Pulmonary Disease 15 1 (2018): 4-9. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041565481&partnerID=MN8TOARS.
    10.1080/15412555.2017.1414779
  25. Lopes, A.P.; Mineiro, M.A.; Costa, F.; Gomes, J.; Santos, C.; Antunes, C.; Maia, D.; et al. "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency". Pulmonology (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85056379630&partnerID=MN8TOARS.
    10.1016/j.pulmoe.2018.09.004
  26. Figueiredo, J.; Melo, S.; Gamet, K.; Godwin, T.; Seixas, S.; Sanches, J.M.; Guilford, P.; Seruca, R.. "E-cadherin signal sequence disruption: A novel mechanism underlying hereditary cancer". Molecular Cancer 17 1 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85051027654&partnerID=MN8TOARS.
    10.1186/s12943-018-0859-0
  27. Valente, C.; Alvarez, L.; Marques, P.I.; 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 4 (2018): 1139-1152. http://www.scopus.com/inward/record.url?eid=2-s2.0-85054415545&partnerID=MN8TOARS.
    10.1093/gbe/evy071
  28. Monteiro, C.; Marques, P.I.; Cavadas, B.; Damião, I.; Almeida, V.; Barros, N.; Barros, A.; et al. "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 79 6 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85042680377&partnerID=MN8TOARS.
    10.1111/aji.12838
  29. Carvalho, A.S.; Cuco, C.M.; Lavareda, C.; Miguel, F.; Ventura, M.; Almeida, S.; Pinto, P.; et al. "Bronchoalveolar Lavage Proteomics in Patients with Suspected Lung Cancer". Scientific Reports 7 (2017): http://www.scopus.com/inward/record.url?eid=2-s2.0-85011887548&partnerID=MN8TOARS.
    10.1038/srep42190
  30. Malik, R.; Dau, T.; Gonik, M.; Sivakumar, A.; Deredge, D.J.; Edeleva, E.V.; Götzfried, J.; et al. "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 14 (2017): 3613-3618. http://www.scopus.com/inward/record.url?eid=2-s2.0-85016951331&partnerID=MN8TOARS.
    10.1073/pnas.1616301114
  31. Marques, P.I.; Fonseca, F.; Carvalho, A.S.; Puente, D.A.; Damião, I.; Almeida, V.; Barros, N.; et al. "Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes". Human Reproduction 31 12 (2016): 2881-2891. http://www.scopus.com/inward/record.url?eid=2-s2.0-85014430506&partnerID=MN8TOARS.
    10.1093/humrep/dew267
  32. Silva, D.; Oliveira, M.J.; 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 (2016): 8-18. http://www.scopus.com/inward/record.url?eid=2-s2.0-84966293248&partnerID=MN8TOARS.
    10.1016/j.rmed.2016.05.002
  33. Marques, P.I.; 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 1 (2016): 93-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-84964766126&partnerID=MN8TOARS.
    10.1093/molbev/msv199
  34. Oliveira, M.J.; Seixas, S.; Ladeira, I.; Monteiro, R.; Shiang, T.; Guimarães, M.; Lima, R.. "Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi*ZQ0gaia - Q0gaia allele". Revista Portuguesa de Pneumologia 21 6 (2015): 341-343. http://www.scopus.com/inward/record.url?eid=2-s2.0-85009265631&partnerID=MN8TOARS.
    10.1016/j.rppnen.2015.07.002
  35. Seabra, C.M.; Quental, S.; Lima, A.C.; Carvalho, F.; Gonçalves, J.; Fernandes, S.; Pereira, I.; et al. "The mutational spectrum of WT1 in male infertility". Journal of Urology 193 5 (2015): 1709-1715. http://www.scopus.com/inward/record.url?eid=2-s2.0-84927913414&partnerID=MN8TOARS.
    10.1016/j.juro.2014.11.004
  36. Lima, A.C.; Carvalho, F.; Gonçalves, J.; Fernandes, S.; Marques, P.I.; Sousa, M.; Barros, A.; et al. "Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure". Andrology 3 5 (2015): 825-833. http://www.scopus.com/inward/record.url?eid=2-s2.0-84942294291&partnerID=MN8TOARS.
    10.1111/andr.12063
  37. Moleirinho, A.; Lopes, A.M.; Seixas, S.; Morales-Hojas, R.; Prata, M.J.; Amorim, A.. "Distinctive patterns of evolution of the d- Globin gene (HBD) in primates". PLoS ONE 10 4 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84928775874&partnerID=MN8TOARS.
    10.1371/journal.pone.0123365
  38. Gomes, S.; Marques, P.I.; Matthiesen, R.; Seixas, S.. "Adaptive evolution and divergence of SERPINB3: A young duplicate in great apes". PLoS ONE 9 8 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84928215105&partnerID=MN8TOARS.
    10.1371/journal.pone.0104935
  39. Marques, P.I.; Ferreira, Z.; Martins, M.; Figueiredo, J.; Silva, D.I.; Castro, P.; Morales-Hojas, R.; Simões-Correia, J.; Seixas, S.. "SERPINA2 Is a Novel Gene with a Divergent Function from SERPINA1". PLoS ONE 8 6 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84879472715&partnerID=MN8TOARS.
    10.1371/journal.pone.0066889
  40. Moleirinho, A.; Seixas, S.; Lopes, A.M.; Bento, C.; Prata, M.J.; 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 3 (2013): 559-571. http://www.scopus.com/inward/record.url?eid=2-s2.0-84876571638&partnerID=MN8TOARS.
    10.1093/gbe/evt029
  41. Ferreira, Z.; Seixas, S.; Andrés, A.M.; Kretzschmar, W.W.; Mullikin, J.C.; Cherukuri, P.F.; Cruz, P.; et al. "Reproduction and immunity-driven natural selection in the human WFDC locus". Molecular Biology and Evolution 30 4 (2013): 938-950. http://www.scopus.com/inward/record.url?eid=2-s2.0-84875635332&partnerID=MN8TOARS.
    10.1093/molbev/mss329
  42. Ferreira, Z.; Hurle, B.; Andrés, A.M.; Kretzschmar, W.W.; Mullikin, J.C.; Cherukuri, P.F.; Cruz, P.; et al. "Sequence diversity of pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity". Genome Biology and Evolution 5 12 (2013): 2512-2523. http://www.scopus.com/inward/record.url?eid=2-s2.0-84892549499&partnerID=MN8TOARS.
    10.1093/gbe/evt198
  43. Seixas, S.; Ivanova, N.; Ferreira, Z.; Rocha, J.; Victor, B.L.. "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 7 2 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84857664937&partnerID=MN8TOARS.
    10.1371/journal.pone.0032518
  44. Marques, P.I.; Bernardino, R.; Fernandes, T.; Green, E.D.; 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 12 (2012): 1331-1338. http://www.scopus.com/inward/record.url?eid=2-s2.0-84876535104&partnerID=MN8TOARS.
    10.1093/gbe/evs111
  45. 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 5 (2012): 462-469. http://www.scopus.com/inward/record.url?eid=2-s2.0-84859602481&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2011.01670.x
  46. 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 10 (2011): 2811-2822. http://www.scopus.com/inward/record.url?eid=2-s2.0-80053178745&partnerID=MN8TOARS.
    10.1093/molbev/msr106
  47. Pinheiro, H.; Bordeira-Carriço, R.; Seixas, S.; Carvalho, J.; Senz, J.; Oliveira, P.; Inácio, P.; et al. "Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer". Human Molecular Genetics 19 5 (2010): 943-952. http://www.scopus.com/inward/record.url?eid=2-s2.0-77950533734&partnerID=MN8TOARS.
    10.1093/hmg/ddp537
  48. Silva, L.M.; Carvalho, A.S.; Guillon, P.; Seixas, S.; Azevedo, M.; Almeida, R.; Ruvoën-Clouet, N.; et al. "Infection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studies". Glycoconjugate Journal 27 1 (2010): 61-68. http://www.scopus.com/inward/record.url?eid=2-s2.0-77749280085&partnerID=MN8TOARS.
    10.1007/s10719-009-9255-8
  49. 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 2 (2007): 587-598. http://www.scopus.com/inward/record.url?eid=2-s2.0-33846805804&partnerID=MN8TOARS.
    10.1093/molbev/msl187
  50. Suriano, G.; Seixas, S.; Rocha, J.; Seruca, R.. "A model to infer the pathogenic significance of CDH1 germline missense variants". Journal of Molecular Medicine 84 12 (2006): 1023-1031. http://www.scopus.com/inward/record.url?eid=2-s2.0-34249980933&partnerID=MN8TOARS.
    10.1007/s00109-006-0091-z
  51. Maia, L.F.; Vasconcelos, C.; Seixas, S.; Magalhães, R.; Correia, M.. "Lobar brain hemorrhages and white matter changes: Clinical, radiological and laboratorial profiles". Cerebrovascular Diseases 22 2-3 (2006): 155-161. http://www.scopus.com/inward/record.url?eid=2-s2.0-33746361171&partnerID=MN8TOARS.
    10.1159/000093245
  52. Coelho, M.; Luiselli, D.; Bertorelle, G.; Lopes, A.I.; Seixas, S.; Destro-Bisol, G.; Rocha, J.. "Microsatellite variation and evolution of human lactase persistence". Human Genetics 117 4 (2005): 329-339. http://www.scopus.com/inward/record.url?eid=2-s2.0-23944493133&partnerID=MN8TOARS.
    10.1007/s00439-005-1322-z
  53. 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 76 2 (2004): 277-287. http://www.scopus.com/inward/record.url?eid=2-s2.0-3543042483&partnerID=MN8TOARS.
  54. Guerra, A.; Rego, C.; Castro, E.M.B.; Seixas, S.; Rocha, J.. "Influence of apolipoprotein E polymorphism on cardiovascular risk factors in obese children". Annals of Nutrition and Metabolism 47 2 (2003): 49-54. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037233140&partnerID=MN8TOARS.
    10.1159/000069275
  55. Seixas, S.; Ferrand, N.; Rocha, J.. "Microsatellite variation and evolution, of the human Duffy blood group polymorphism [3]". Molecular Biology and Evolution 19 10 (2002): 1802-1806. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036792107&partnerID=MN8TOARS.
  56. Seixas, S.; Mendonça, C.; Costa, F.; Rocha, J.. "a1-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 2 (2002): 175-180. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036705769&partnerID=MN8TOARS.
    10.1034/j.1399-0004.2002.620212.x
  57. 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 74 3 (2002): 397-411. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036023257&partnerID=MN8TOARS.
  58. Seixas, S.; Lopez, A.I.; Rocha, J.; Silva, L.; Salgueiro, C.; Salazar-de-Sousa, J.; Batista, A.. "Association between the defective Pro369Ser mutation and in vivo intrahepatic a1-antitrypsin accumulation [5]". Journal of Medical Genetics 38 7 (2001): 472-474. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034939947&partnerID=MN8TOARS.
  59. Seixas, S.; Garcia, O.; Trovoada, J.M.; Santos, T.M.; Amorim, A.; Rocha, J.. "Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: Insights into the natural history of the a1-antitrypsin polymorphism". Human Genetics 108 1 (2001): 20-30. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035129485&partnerID=MN8TOARS.
    10.1007/s004390000434
  60. 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 1 (2000): 121-122. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033630359&partnerID=MN8TOARS.
    10.1002/(SICI)1098-1004(200001)15:1<121::AID-HUMU37>3.0.CO;2-U
  61. Seixas, S.; Trovoada, M.J.; Santos, M.T.; Rocha, J.. "A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa)". Human Mutation 13 5 (1999): 414-397. http://www.scopus.com/inward/record.url?eid=2-s2.0-4243811951&partnerID=MN8TOARS.
  62. Seixas, S.; Trovoada, M.J.; Rocha, J.. "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 ancestral APOE allele". Human Biology 71 6 (1999): 1001-1008. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033485997&partnerID=MN8TOARS.
Newsletter article
  1. Seixas, Susana. "Ponto de situação sobre as mutações causadoras de DAAT", DAATNEWS PORTUGAL, 2022, https://www.proyectosseguros.com/www.daatnews.pt/2022/Newsletter_09/inicio.html.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2022 Genetic diagnosis in AATD Spring Forum of Working Committees
(Portugal)
2020 New diagnostic methods in Alpha-1 Antitrypsin Deficit: DRY DROP TEST Working Committees Forum
Sociedade Portuguesa de Pneumologia (Porto (virtual event), Portugal)
2019 Seixas S. Pathophysiology of Alpha1-antitrypsin Deficiency (AATD) 2nd European Master Class AATD
CSL Behring (Lisbon, Portugal)
2018 Seixas S. Insights into Mendelian and Multifactorial Disorders: examples from chronic lung disease and male infertility. Seminar at CEDOC
Chronic Diseases Research Center (CEDOC) (Lisbon, Portugal)
2018 Marques PI, Cavadas B, Barros N, Barros A, Carvalho F, Lopes AM, D.F. Conrad DF Seixas S. Whole-exome sequencing reveals discrete etiologies between semen hyperviscosity and asthenozoospermia. Annual Meeting of the Portuguese Society of Genetics
Portuguese Society of Genetics (Porto, Portugal)
2017 Seixas S. Current status of genetic diagnosis of alpha1-antitrypsin deficiency. 33th Congress of the Portuguese Society of Pulmonology
Portuguese Society of Pulmonology (Albufeira, Portugal)
2016 Seixas S. Alpha-1-antitrypsin deficiency in Portugal - the perspective of a genetic diagnosis laboratory. 32th Congress of the Portuguese Society of Pulmonology
Portuguese Society of Pulmonology (Albufeira, Portugal)
2016 Marques PI, Fonseca F, Carvalho AS, Puente DA, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Azkargorta M, Elortza F, Osório H, Mathiesen R, Quesada V, Seixas S . Sequence variation at KLK and WFDC clusters and its association to male infertility. 17th Meeting Portugalia Genetica
(Porto, Portugal)
2016 Seixas S. Alpha-1-antitrypsin deficiency and its genetic diagnosis. 1st Meeting of Alpha-1-antitrypsin - Hospital S. João
Centro Hospitalar São João (Porto, Portugal)
2014 Seixas S. Different evolutionary histories of genes of proteolysis with functions in reproduction and innate immunity. II AEICBAS Biomedical Congress
(Porto, Portugal)
2012 Seixas S. Patterns of diversity of alpha-1-antitrypsin and other genes of proteolysis. 15th Portugaliæ Genetica.
(Porto, Portugal)
2011 Seixas S. Alpha-1-antitrypsin deficiency: mutation spectrum, molecular diagnosis and clinical cases linked to rare mutations. 27th Congress of the Portuguese Society of Pulmonology
Portuguese Society of Pulmonology (Porto, Portugal)
2011 Seixas S. Examples of human adaptation in the proteolysis universe. , Lisboa, Portugal. Seminar
Instituto Gulbenkian de Ciência (IGC) (Oeiras, Portugal)
2011 Seixas S, Ivanova N, Ferreira Z, Rocha J, Victor BL. Loss and gain of function in human SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions. European Society of Human Genetics Conference
European Society of Human Genetics (Amesterdan, Netherlands)
2010 Seixas S. An evolutionary perspective into the world of serine protease inhibitors Seminar at NHGRI/NIH
National Human Genome Research Institute at the National Institutes of Health (NHGRI/NIH) (Bethseda, United States)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2023/01 - Current Penetrance estimation and clinical, demographic and genetic characterization of HDGC families sharing a founder variant followed at Centro Hospitalar Universitario São João (CHUSJ)
Co-supervisor
 Informática Médica
Universidade do Porto Faculdade de Medicina, Portugal
2021/09 - 2022/12 Using state of the art technologies to characterize the seminal microbiome
Co-supervisor
 Ciências Forenses (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2016/09 - 2017/12/07 A genetic study of male infertility centered in semen hyperviscosity and asthenozoospermia phenotypes
Supervisor of Joana Catarina Pereira Meireles Gonçalves
 Bioquímica (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2016/09 - 2017/11/16 Exploring the role of proteolysis in Extracellular Matrix remodeling: Links to Chronic Obstructive Pulmonary Disease and Lung Cancer
Supervisor of João Abel Rainho Fonseca
 Genética Molecular e Biomedicina (Master)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2010/11/11 - 2016/04/19 An evolutionary perspective into the role of kallikreins (KLKs) in male reproductive biology
Supervisor of Patrícia Isabel Ferreira Marques
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014/09 - 2015/12/14 Study of the seminal plasma microbiome in infertility cases and controls (in Portuguese)
Supervisor of Catarina Isabel Loureiro Monteiro
 Bioquímica (Master)
Universidade de Aveiro, Portugal
2013/09/11 - 2014/11/10 Alpha-1-Antitrypsin deficiency, exploring the role of SERPINA1 rare variants and searching for genetic modifiers of associated diseases (Granulomatosis with Polyangiitis)
Supervisor of Deolinda Isabel Fernandes da Silva
 Bioquímica (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2009/03/04 - 2013/09/06 The human whey-acidic-protein Four-Disulfide Core-Domain (WFDC) cluster on 20q13 region: evolutionary history and role in human health and disease
Supervisor of Zélia Alexandra Quintas Mota Ferreira
 Biodiversidade, Genética e Evolução (PhD)
Universidade do Porto Faculdade de Ciências, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2011 - 2011 1st Post-Doc Forum Symposium at IPATIMUP entitled ¿Genomics Applied to Human Disease (2011/07/04 - 2011/07/04)
Symposium (Co-organisor)
 Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2011 - 2011 Organization of the 3rd Post-Doc Forum Symposium at IPATIMUP entitled ¿At the crossroads of genomics and evolution (2011/12/19 - 2011/12/19)
Symposium (Co-organisor)
 Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2022 - Current DAAT Experts - Forum Iberia
2021/11/03 - 2021/11/05 Training on Genotyping Ciliopathies -LYSOCIL Staff Exchange
Workshop
Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal
2020 - 2020 Metabolic alterations in lung ageing and diseases. Selected Poster Communication: Gonçalves1 JC, Vaz Rodrigues L, Marques PI Seixas S. Unravelling the genetic landscape of early-onset emphysema by whole exome sequencing
Conference
 18th ERS Lung Science Conference
European Respiratory Society, Switzerland
2019 - 2019 Mechanisms of Acute Exacerbation of Respiratory Disease Selected Poster Communication: Gomes S, Cavadas B, Ferreira JC, Marques PI, Monteiro C , Sucena M, Sousa C, Rodrigues LV, Teixeira G, Pinto P, Tavares de Abreu T, Bárbara C, Semedo J, Mota L, Carvalho AS, Matthiesen R, Pereira L, Seixas S. Microbiota profile of Non-small Cell Lung Cancer (NSCLC): the study of a large cohort
Conference
 17th ERS Lung Science Conference
European Respiratory Society, Switzerland
2019 - 2019 AATD Experts forum Iberia 2019
Meeting
CSL Behring Lda., Portugal
2019 - 2019 The frontiers of research in interstitial lung disease
Seminar
Universidade do Minho Escola de Medicina, Portugal
2018 - 2018 Cell-matrix interactions in lung disease and regeneration
Conference
 16th Lung Science Conference
European Respiratory Society, Switzerland
2017 - 2017 Student Poster Communication Gonçalves JC, Marques PI, Seixas S . Association of the Oxidative stress-induced growth inhibitor 1 (OSGIN1) gene to male infertility.
Congress
 10th IJUP, Porto, Portugal
Universidade do Porto, Portugal
2017 - 2017 Student Poster Communication: Fonseca J, Seixas S (2018) Exploring the role of proteolysis genes in alterations of the extracellular matrix and their links to Chronic Obstructive Pulmonary Disease and Lung Cancer.
Congress
 10th IJUP Porto, Portugal
Universidade do Porto, Portugal
2015 - 2015 Student Poster Communication: Marques PI, Fonseca F, Sousa T, Santos P, Camilo V, Ferreira Z, Quesada V, Seixas S . Cis-regulation at the KLK cluster another case of adaptive evolution in Asians?
Congress
 The 23th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2015, Vienna, Austria
Society for Molecular Biology and Evolution, United States
2015 - 2015 Student Poster Communication: Fonseca F, Marques PI, Carvalho AS, Damião I, Almeida V, Barros N, Barros A, Carvalho F, Mathiesen R, Quesada V, Seixas S . Human SEMG1 and SEMG2 variation and its correlation with infertility phenotypes.
Congress
 The 23th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2015, Vienna, Austria
Society for Molecular Biology and Evolution, United States
2015 - 2015 Poster Communication: Seixas S. The fate of young and old duplicates from 14q32.1 and 18q21.3 SERPIN gene clusters.
Congress
 The 23th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2015, Vienna, Austria.
Society for Molecular Biology and Evolution, United States
2015 - 2015 Student Poster Communication: Monteiro C, Fonseca F, Gomes S, Seixas S. Characterization of the semen microbiome in infertility cases and controls.
Congress
 8th IJUP, Porto, Portugal
Universidade do Porto, Portugal
2014 - 2014 Student Poster Communication: Marques PI, Sousa T, Santos P, Ferreira Z, Quesada V, Seixas S (2014) Characterization of the genetic landscape of human KLK cluster uncovers unusual low levels of diversity in Asians. 16th Portugaliae Genetica, Porto, Portugal
Meeting
 16th Portugaliae Genetica, Porto, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2014 - 2014 Student Poster Communication: Gomes S, Marques PI, Matthiesen R, Seixas S Adaptive evolution and divergence of SERPINB3: a young duplicate in Great Apes.
Meeting
 16th Portugaliae Genetica, Porto, Portugal.
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2014 - 2014 Student Poster Communication: Silva D, Seixas S. Alpha1-antitrypsin deficiency caused by rare alleles: haplotype characterization and history.
Congress
 7th IJUP, Porto, Portugal
Universidade do Porto, Portugal
2012 - 2012 Student Poster Communication. Ferreira Z, Seixas S, Andrés A, Kretzschmar W, Mullikin J, Cherukuri P, Cruz P, Gonder MK, Stone A, Tishkoff S, Swanson W, NISC Comparative Sequencing Program, Clark AG, Green E, and Hurle B. Reproduction and immunity driven natural selection in the Chimpanzee WFDC locus.
Congress
 62nd Annual Meeting of the American Society of Human Genetics. San Francisco, California, USA
American Society of Human Genetics, United States
2012 - 2012 Student Poster Communication: Marques PI, Bernardino R, Fernandes T, Hurle B, Quesada V, Seixas S. Patterns of KLK2 and KLK3 diversity in Cercopithecoidea.
Congress
 The 20th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2012, Dublin, Ireland
Society for Molecular Biology and Evolution, United States
2012 - 2012 Student Poster Communication: Ferreira Z, Seixas S, Andrés A, Kretzschmar W, Mullikin J, Cherukuri P, Cruz P, Swanson W, NISC Comparative Sequencing Program. Clark AG, Green E, Hurle B. (2012). The WFDC locus: a preferred target of natural selection in humans.
Congress
 The 20th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2012, Dublin, Ireland
Society for Molecular Biology and Evolution, United States
2011 - 2011 Student Poster Communication: Marques P, Ferreira Z, Martins M, Figueiredo J, Correia J, Seixas S . Contrasting features of the close homologues SERPINA2 and SERPINA1.
Congress
 EUROPEAN Human Genetics CONFERENCE 2011, Amsterdam, Netherlands.
European Society of Human Genetics, Austria
2010 - 2010 Student Poster Communication: Marques P, Ferreira Z, Figueiredo J, Correia J, Rocha J, Seixas S. Tales from a duplicated gene: the example of SERPINA2 .
Congress
 The 18th Annual Meeting of the Society for Molecular Biology and Evolution - SMBE2010, Lyon, France
Society for Molecular Biology and Evolution, United States
2009 - 2009 Rodrigues LV, Costa F, Rocha J, Seixas S Mendonça C (2009). Défice de alfa-1 antitripsina (AAT) associado à mutação Q0ourém: Revisão dos aspectos clínicos da nossa população de doentes. (Best comunication – Thomé Villar / Boerhringer Ingelheim)
Congress
 XXV Congress of the Portuguese Society of Pneumology. Albufeira, Portugal
Sociedade Portuguesa de Pneumologia, Portugal
2009 - 2009 Student Poster Communication: Ferreira Z, Marques P, Figueiredo J, Correia J, Rocha J, Seixas S. From gene evolution to gene function: characterization of a newly identified SERPINA2.
Congress
 59th Annual Meeting of the American Society of Human Genetics. Honolulu, Hawaii USA
American Society of Human Genetics, United States
2008 - 2008 Student Poster Communication: Ferreira Z, Ivanova N, Rocha J, Seixas S. Searching for evidences of natural selection on the human WFDC cluster located in the 20q13 region.
Congress
 Congress of the Society for Molecular Biology Evolution. Barcelona, Spain.
Society for Molecular Biology and Evolution, United States
2008 - 2008 Student Poster Communication: Ivanova N, Ferreira Z, Rocha J, Seixas S. Loss and gain of gene function in human SERPINB11.
Congress
 Congress of the Society for Molecular Biology Evolution. Barcelona, Spain
Society for Molecular Biology and Evolution, United States

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2020/12/15 Assessment of fertility associated variants in a Portuguese cohort of Azoospermia and Severe Oligozoospermia
(Thesis) Arguer
 Claudia Sofia da Silva Costa (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2020/10/15 Comparative analysis of the Degradome of long-lived metazoans
(Thesis) Main arguer
 José Maria González Pérez-Silva (PhD)
Universidad de Oviedo, Spain
2019/12/04 Quantifying the genetic predisposition to a complex disease through genome-wide association
(Thesis) Arguer
 Ana Margarida Carrapatoso Macedo (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2017/11/29 Fabry disease associated with GLA p.Phe113Leu variant for a common ancestor in Portuguese and Italians, and use of linked markers to estimate the age of the mutation
(Thesis) Arguer
 Diana Luísa Ferreira Martins (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2014/11/05 Contribution to the mutational spectrum of Maple Syrup Urine Disease and functional characterization of the alteration c.108+6T>C in BCKDHA gene
(Thesis) Arguer
 Ana Luísa Archer Carvalho Castro Teixeira (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2012/07/09 Rare structural variants in severe spermatogenic impairment
(Thesis) Arguer
 Catarina Morais Seabra (Master)
Universidade de Aveiro, Portugal

Ad Hoc journal article review

Journal title (ISSN) Publisher
2020 - Current American Journal of Respiratory Cell and Molecular Biology (1535-4989) American Thoracic Society
2017 - 2022 Journal of Medical Genetics
2021 - 2021 Expert Review of Respiratory Medicine
2021 - 2021 Frontiers in Cell and Developmental Biology
2021 - 2021 Respiratory Research
2020 - 2020 Npj Precision Oncology
2019 - 2020 Gut Microbes (1949-0984) Landes Bioscience
2019 - 2020 Carcinogenesis
2017 - 2020 International Journal of Chronic Obstructive Pulmonary Disease
2019 - 2019 Clinical Genetics
2018 - 2019 Orphanet Journal of Rare Diseases (1750-1172) Springer (Biomed Central Ltd.)
2018 - 2019 Genomics Proteomics & Bioinformatics (1672-0229) Elsevier
2018 - 2018 Andrology
2017 - 2017 Molecular Biology and Evolution (1537-1719) Oxford University Press

Association member

Society Organization name Role
2017 - Current Portuguese Society of Pulmonology
2017 - Current European Respiratory Society
2008 - Current Society of Molecular Biology and Evolution

Committee member

Activity description
Role 		Institution / Organization
2019 - Current EARCO: European Alpha -1- Research Collaboration (https://www.earco.eu/)
Advisor / Consultant
 European Respiratory Society, Switzerland

European Lung Foundation, United Kingdom
2017 - Current alpha-1-antitrypsin deficiency working group
Member
 Sociedade Portuguesa de Pneumologia, Portugal
2015/01/01 - Current Genetics of Male Infertility Initiative (GEMINI) http://gemini.wustl.edu/
Member
 Washington University in Saint Louis, United States

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
2019 - 2020 Iberian AZOONOMIC -Portuguese-Spanish working group on the genetics of male infertility stablished in the scope of the research grant “Identification and characterization of the molecular mechanisms underlying non-obstructive azoospermia by integrating genomic and transcriptomic data” founded by the Spanish Ministry of Economy and Competitiveness (Ref: SAF2016-78722-R) to David Carmona and Rogelio Palomino.
Member

Consulting

Activity description Institution / Organization
2021 - Current Expert reviewer/editor for the MedlinePlus website (https://medlineplus.gov/genetics), a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).
2011 - Current Scientific leadership of alpha-1-antitrypsin genotyping service Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2023/05/24 - 2023/05/24 Lecture "Male Infertility, Causes and Risk Factors: a Genetic and Microbiological Perspective" Biologia Celular e Molecular (Mestrado integrado) Universidade do Porto Faculdade de Ciências, Portugal
2022/12 - 2022/12 Lecture "Airway microbiome and its implications in the development of lung cancer" at Conferences in Oncobiology Farmácia (Licenciatura) Universidade do Porto Faculdade de Farmácia, Portugal
2010 - 2010 The evolutionary bases of human genetic variation (practical lectures) Biodiversidade, Genética e Evolução (Mestrado integrado) Universidade do Porto Faculdade de Ciências, Portugal
2010 - 2010 The evolutionary bases of human genetic variation (practical lectures) Biodiversidade, Genética e Evolução (Doutoramento) Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2009 The evolutionary bases of human genetic variation (practical lectures) Biodiversidade, Genética e Evolução (Mestrado integrado) Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2009 The evolutionary bases of human genetic variation (practical lectures) Biodiversidade, Genética e Evolução (Doutoramento) Universidade do Porto Faculdade de Ciências, Portugal

Evaluation committee

Activity description
Role 		Institution / Organization Funding entity
2024/01/11 - 2024/01/11 Evaluation PhD project (1st year) - Circulating microbial DNA signatures for early diagnosis of gastric cancer - Melissa Rocha student from the Doctoral Programme in Biomedicine
Evaluator
 Universidade do Porto Faculdade de Medicina, Portugal
2023/05/29 - 2023/05/29 Evaluation 1st year MSc project - EVALUATION OF THE FECAL MICROBIOME PROFILE THROUGH COMPARATIVE ANALYSIS OF THE NANOPORE MINION AND ILLUMINA NGS 16S PLATFORMS FOR IDENTIFICATION OF BIOMARKERS OF COLORECTAL CANCER EVOLUTION - student Marilia Almeida
Evaluator
 Hospital de Câncer de Barretos, Brazil
2023/05/26 - 2023/05/26 Evaluation of the PhD project (1st year) - Improved predictive models for SARS-CoV-2 infection (2022.12644.BD) - Ricardo Soares student of the Doctoral program Molecular and Cell Biology
Evaluator
 Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Journal scientific committee

Journal title (ISSN) Publisher
2015 - Current Frontiers in Genetics (1664-8021) Frontiers Media SA

Mentoring / Tutoring

Topic Student name
2017 - 2022 Understanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach Patrícia Isabel Ferreira Marques
2020/12 - 2021/11 The complex interactions between the pulmonary extracellular matrix and the lung microbiome in cancerevolution: a road to personalized medicine and earlydiagnosis? Nuno Carlos
2019 - 2020 An association study of male infertility centered in hyperviscosity and asthenozoospermia Joana Catarina Gonçalves
2012 - 2017 Addressing co-evolution and new protein-protein interactions among SERPINB3/B4 and proteases Silvia Gomes
2014 - 2015 Research Grant PTDC/BEX-GMG/0242/2012 associated technician/researcher (BSc; MSc) Filipa Fonseca
2013 - 2014 Research Grant PTDC/BEX-GMG/0242/2012 associated technician/researcher (BSc; MSc). Paulo Santos
2013 - 2013 Research Grant PTDC/BEX-GMG/0242/2012 associated technician/researcher (BSc; MSc) Tânia Sousa
2011 - 2011 FCT Research Grant PTDC/SAU-GMG/64043/2006 associated technician/ researcher: (BSc). Manuella Martins
2009 - 2011 FCT Research Grant PTDC/SAU-GMG/64043/2006 associated technician/ researcher (BSc, MSc) Patrícia Marques
2007 - 2009 FCT Research Grant PTDC/SAU-GMG/64043/2006 associated technician/ researchers (BSc) Zélia Ferreira
2007 - 2008 Research Grant PTDC/SAU-GMG/64043/2006 associated technician/researcher (PhD) Nevyana Ivanova

Other jury / evaluation

Activity description Institution / Organization
2023/09 - 2023/09 Research project assessor for the The Leakey Foundation (San Francisco, CA, USA) The Leakey Foundation , United States
2023/05/10 - 2023/05/12 Oral communications jury in the 16th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2022 - 2022 Posters communications jury in the 15th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2021 - 2021 Research project assessor for the Willy Gepts Foundation (Brussels, Belgium)
2021 - 2021 Research project assessor for Qatar National Research Fund (National Priorities Research Program). Qatar National Research Fund, Qatar
2021 - 2021 Oral communications jury in the 14th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2020 - 2020 Abstract assessor for the European Society Human Genetics Conference.(Topic: Genetic Epidemiology, Population Genetics and Evolutionary Genetics) European Society of Human Genetics, Austria
2020 - 2020 Posters communications jury in the 13th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2018 - 2018 Posters and oral communications jury in the 11th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2017 - 2017 Posters communications jury in the 10th IJUP, Porto, Portugal. Universidade do Porto, Portugal
2015 - 2015 Abstract assessor for the European Society of Human Genetics Conference. European Society of Human Genetics, Austria
Distinctions

Award

2012 Takeda Portugal 2012 for the best work published in a international scientific journal
Sociedade Portuguesa de Pneumologia, Portugal
2009 Thomé Villar / Boerhringer Ingelheim Prize
Sociedade Portuguesa de Pneumologia, Portugal
2007 Travel Grant to the Congress of the Society of Molecular Biology Evolution. Halifax, Canada.
Fundação Calouste Gulbenkian, Portugal