Luísa Romão (EB19-DF07-EB37)

Curriculum Vitae

Luísa Romão

Luísa Romão is Principal Investigator and Head of the mRNA Metabolism Group of the Human Genetics Department at The National Institute of Health Doutor Ricardo Jorge (INSA), Invited Professor at Faculdade de Ciências of Universidade de Lisboa (FCUL), and Principal Researcher at Instituto de Biossistemas e Ciências Integrativas (BIOISI) Universidade de Lisboa. Luísa Romão graduated in Applied Chemistry (Biotechnology) at Faculdade de Ciências e Tecnologia of Universidade Nova de Lisboa (18/09/1986), got a PhD degree in Biology (Molecular Genetics) at Universidade Nova de Lisboa (24/03/1994), and received her Habilitation in Post-Transcriptional Control of Gene Expression at INSA (09/09/2009). Luísa Romão was president of the Portuguese Society of Human Genetics in 2017. Since July 2023, she is the President of the Scientific Council of the National Institute of Health Doutor Ricardo Jorge. Luísa Romão has a longstanding interest on the mechanisms of post-transcriptional control of gene expression. Indeed, she gained these scientific interests during her PhD at University of Pennsylvania (Howard Hughes Medical Institute) where she developed her thesis entitled "Expression studies of the human alpha-globin genes" under the supervision of Prof. Stephen Liebhaber. Since then, she has been studying the mechanism of nonsense-mediated mRNA decay and its interplay with mRNA translation in human cells and has been pioneer in relevant discoveries. More recently, she also became interested in studying mechanisms of translational control in human health and disease. Her efforts to answer big questions in key molecular and cellular events, have granted her publications in top journals such as Molecular Cancer, Blood, and Nucleic Acids Research. Proof of her work are her more than 70 scientific articles published in peer-reviewed journals. In addition, she published several book chapters, edited 3 books, organized several events and received 17 awards and/or honors. She has been principal investigator in 13 research grants, co-principal investigator in 2 and researcher in 10 other projects. Also, she is integrated in international scientific projects: one project financed by EU (HORIZON-HLTH-2021-ENVHLTH-03: 101057014), one financed by European Cooperation in Science and Technology (COST) Action (Translational control in health and disease; CA21154), and one recently financed by La Caixa. Luísa Romão has supervised over 40 research students (under sole supervision: 14 completed PhDs and 22 completed MScs). Besides her vast experience in the supervision of postgraduate students, Luísa Romão participates regularly with teaching and module organization of graduate programs at FCUL, as well as at other universities. Luísa Romão has served as expert evaluator of proposals and projects for international foundations and funding agencies in Europe, US, and Middle East, such as The Wellcome Trust, Medical Research Council, European Union, European Science Foundation, Czech Science Foundation, American Dystonia Medical Research Foundation, Israel Science Foundation, Swiss 3R Competence Center, Agence National de Recherche, and Portuguese Science Foundation, and has regular activity as peer-reviewer in more than 30 international journals, such as EMBO Journal, Nature Communications, Genome Research, or Nucleic Acids Research.

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Identification

Personal identification

Full name: Luísa Romão
Gender: Female

Citation names

Romão, Luísa
L Romão
Luisa Romao
Romão L
Luísa Romão

Author identifiers

Ciência ID: EB19-DF07-EB37
ORCID iD: 0000-0002-5061-5287
Google Scholar ID: https://scholar.google.pt/citations?hl=pt-PT&user=CAHjIsoAAAAJ&cstart=60&pagesize=20
Researcher Id: A-2289-2016
Scopus Author Id: http://www.scopus.com/authid/detail.url?authorId=6602834878

Addresses

Instituto Nacional de Saúde Doutor Ricardo Jorge, Departamento de Genética Humana, Av. Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Professional)

Websites

http://www.insa.pt/ (Professional)
http://bioisi.pt/ger/ (Scholar)

Knowledge fields

Medical and Health Sciences - Basic Medicine - Human Genetics
Natural sciences - Biological Sciences - Molecular Biology

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
English	Advanced (C1)	Proficiency (C2)	Proficiency (C2)	Advanced (C1)
French	Advanced (C1)	Advanced (C1)	Intermediate (B1)	Advanced (C1)

Projects

Grant

	Designation	Funders
2022/02/04 - 2029/02/03	Partnership for the assessment of risks from chemicals 101057014 Researcher	Ongoing
2024/01/01 - 2026/12/31	1. Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients HR23-0749 Integration into Research Grant Fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação 'la Caixa' Ongoing
2020/03/01 - 2021/02/28	Restoring NKX6-2 function by protein complementation: a proof-of concept UIDB/04046/2020 UIDP/04046/2020 UIDP/04046/2020 Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal Universidade de Lisboa Faculdade de Ciências, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Contract

	Designation	Funders
2019/01/01 - 2021/12/31	Studying and targeting the non-coding functions of p53 mRNA in carcinogenesis FCT/PTDC/MED-ONC/32048/2017 Other FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2019/01/01 - 2019/12/31	Instituto de Biosistemas & Ciências Integrativas UID/Multi/04046/2019 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Minho, Portugal Universidade do Porto Faculdade de Ciências, Portugal Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal Universidade de Lisboa Faculdade de Ciências, Portugal Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/04/01 - 2019/03/31	Studying and targeting the non-canonical translation of p53 isoforms during stress and carcinogenesis FCT/PTDC/BIM-ONC/4890/2014 Other Pró-INSA, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/04/01 - 2019/03/31	• Nonsense-mediated mRNA decay in genetic diseases and cancer: key players, mechanisms, and a novel approach for suppression therapy FCT/PTDC/BIM-MEC/3749/2014 Principal investigator FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2013/06 - 2015/06	• Translational regulation of human erythropoietin (EPO) by an upstream open reading frame (uORF) and its impact on myocardial ischemia PTDC/BIM-MED/0352/2012 Principal investigator Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2012/01/01 - 2014/12/31	• Identification of new proteins involved in colorectal cancer due to internal ribosome entry site (IRES)-mediated translation n/a Principal investigator Fundação Merck, Sharp & Dohme, Portugal	Fundação Merk Sharp & Dome Concluded
2011/01/01 - 2013/12/31	Strategic Project - UI 4046 - 2011-2012 PEst-OE/BIA/UI4046/2011 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Minho, Portugal Universidade do Algarve, Portugal Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2011/01/01 - 2013/12/31	Strategic Project - UI 9 - 2011-2012 PEst-OE/SAU/UI0009/2011 Universidade Nova de Lisboa Centro de Toxicogenómica e Saúde Humana, Portugal Universidade NOVA de Lisboa NOVA Medical School, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2010/01/01 - 2012/12/31	• The role of mRNA translation on nonsense-mediated decay inhibition as a modifier of human genetic disorders due to nonsense mutations FLAD/148/2010 Principal investigator	Fundação Luso-Americana Concluded
2008/01/01 - 2010/12/31	• Diagnosis, Prognosis and Treatment of Cystic Fibrosis FCT/PIC/IC/83103/2007 Researcher FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2007/01/01 - 2009/12/31	• Study of post-transcriptional regulation of HFE gene expression - a contribution to understand its role in iron homeostasis and in Hereditary Hemochromatosis development FCT/PTDC/SAU-GMG/64494/2006 Researcher	Fundação para a Ciência e a Tecnologia Concluded
2005/01/01 - 2007/12/31	• Study of the human alpha-globin nonsense-mediated mRNA decay FCT/POCTI/BIA-BCM/59140/2004 Principal investigator	Fundação para a Ciência e a Tecnologia
2005/01/01 - 2007/12/31	• Study of the mechanism by which the proximity of the nonsense codon to the AUG inhibits the nonsense-mediated mRNA decay FCT/POCTI/SAU-MMO/57573/2004 Principal investigator	Fundação para a Ciência e a Tecnologia Concluded
2005/07/01 - 2007/06/30	Interactoma da Proteína CFTR POCI/SAU-MMO/58425/2004 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal Universidade Nova de Lisboa Centro de Toxicogenómica e Saúde Humana, Portugal Universidade de Lisboa Faculdade de Ciências, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2004/01/01 - 2006/12/31	• Genetic modifiers of morbidity in sickle cell disease FCT/IME/MGI/49853/2003 Researcher	Fundação para a Ciência e a Tecnologia Concluded
2003/01/01 - 2005/12/31	• Identification and characterization of cis-acting elements and trans-acting factors involved in the human beta-globin nonsense-mediated mRNA decay FCT/POCTI/MGI/48296/2002 Principal investigator	Fundação para a Ciência e a Tecnologia
2003/01/01 - 2005/12/31	• Modernization of the laboratory equipment for the National Program of the Hemoglobinopathies Control SaúdeXXI/761/1.1 Principal investigator	Representação Permanente de Portugal junto da União Europeia SAÙDE XXI
2001/01/01 - 2003/12/31	• Study of the human beta-globin nonsense-mediated mRNA decay FCT/POCTI/MGI/34105/2000 Principal investigator	Fundação para a Ciência e a Tecnologia Concluded
1997/01/01 - 1999/12/31	• Control of the human beta-globin mRNA stability FCT/PRAXIS 63/96 Principal investigator	Fundação para a Ciência e a Tecnologia Concluded
1993/01/01 - 1995/12/31	• Hemoglobinopathies in the Portuguese Population: from the molecular basis to the physiopathology FCT/PECS/C/SAU/1562/92 Principal investigator	Fundação para a Ciência e a Tecnologia Concluded

Outputs

Publications

Book	Luísa Romão. Biomedicines Special Issue "mRNA Metabolism in Health and Disease 2.0". Switzerland: MDPI. 2022. Editor Biomedicines Special Issue "mRNA Metabolism in Health and Disease". Basel, Switzerland: MDPI. 2019. Published • Editor The mRNA Metabolism in Human Disease. Switzerland: Springer. 2019. Published • Editor
Book chapter	rafael fernandes ED1C-61D9-D2D3; Luisa Romao. "Translational regulation by upstream open reading frames and its relevance to human genetic disease". John Wiley & Sons, Inc., 2020. Published Barbosa, Cristina; Onofre, Claudia; Romão, Luísa. "Upstream open reading frames and human genetic disease". edited by John Wiley & Sons. 2014. 10.1002/9780470015902.a0025714 Silva, Ana Luísa; Romão, Luísa. "Controlo de qualidade do RNA mensageiro em mamíferos: mecanismos de degradação". In O Mundo do RNA, edited by Cecília M. Arraiano; Arsénio M. Fialho. 2007.
Conference abstract	Marques-Ramos A; Luisa Romao. "Cap-independent translation of mTOR is inhibited by rapamycin". Paper presented in CIMAGO Scientific Meeting, Coimbra, 2018. Published Francisco Pereira; Coelho, Ana; L Romão. "The Efficiency of Nonsense-Mediated Decay in Human alpha-globin mRNA depends on the length and sequence of the open reading frame.". Paper presented in Meeting on eukaryotic mRNA processing, COLD SPRING HARBOUR, 2007. Accepted
Conference paper	Marques, Ana Rita; Martiniano, Hugo; Santos, J.X.; Vilela, Joana; Asif, M.; Rasga, C.; Oliveira, G.; Romão, Luísa; Vicente, Astrid. "Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA decay pathway". 2019. Marques, Ana Rita; Martiniano, Hugo; Santos, J.X.; Vilela, Joana; Asif, M.; Oliveira, G.; Romão, Luísa; Vicente, Astrid. "miRNA and lncRNA gene variants in Autism Spectrum Disorder". 2018.
Conference poster	Ramalho, Ana Catarina; Lacerda, Rafaela; Luisa Romao; Candeias, Marco M. Corresponding author: Candeias, Marco M. "Translational Control of delta160p53 Keeps the Dark Side of TP53 in Check". Paper presented in 27th Annual Meeting SPGH, 2023. Ramalho, Ana Catarina; López-Iniesta, Maria José; Lacerda, Rafaela; Parkar, Shrutee N.; Luisa Romao; Candeias, Marco M. "The integrated stress response releases the oncoprotein in TP53". Paper presented in III ASPIC-ASEICA International Meeting, 2023. Ramalho, Ana Catarina; López-Iniesta, Maria José; Lacerda, Rafaela; Parkar, Shrutee N.; Luisa Romao; Candeias, Marco M. "The p53 short isoforms are activated by the integrated stress response to enhance survival in wild-type p53 cancer cell lines". Paper presented in Annual Congress of the European Association for Cancer Research, 2023. Ramalho, Ana Catarina; Filipa da Silva Rita; Jingyuan Zhao; Maria José López-Iniesta; Lacerda, Rafaela; Luisa Romao; Marco M Candeias. "Characterization of an oncogenic isoform of TP53: delta160p53". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics, 2021. Juliane Menezes; Ana Catarina Alves; Rafael Fernandes; Luisa Romao; Mafalda Bourbon. "Functional characterization of variants in the 5¿ UTR and promoter of LDLR gene". Paper presented in EAS meeting, 2021. Juliane Menezes; Ana Catarina Alves; Rafael Fernandes; Luisa Romao; Mafalda Bourbon. "Functional characterization of variants in the 5¿ UTR and promoter of PCSK9 gene". Paper presented in ESHG meeting, 2021. Fonseca Costa, Inês; Marco M Candeias; Luisa Romao; Rafaela Lacerda Santos; Maria López-Iniesta. "Regulation of IRES-mediated translation in p53". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics., 2020. Fonseca Costa, Inês; Rafaela Lacerda; Marco M Candeias; Luisa Romao; Maria López-Iniesta. "The tumor suppressor p53 acquires oncogenic functions due to a translational switch during integrated stress response". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics., 2020. Fernandes, Rafael; Luísa Romão. "Translational regulation of the human PERK by upstream open reading frames". Paper presented in 24ª Reunião Científica da Sociedade Portuguesa de Genética Humana, 2020. Fernandes, Rafael; Luísa Romão. "uORF-mediated translational regulation of the human PERK mRNA". Paper presented in EMBO \| EMBL Symposium ¿The Complex Life of RNA", 2020. Romão, Luísa. "Until March 2022, 178 posters presented in scientific international conferences". 2020. Lacerda, Rafaela; Pereira Bruna; Menezes Juliana; Marques-Ramos A; Rita Neves Ana; Candeias MM; Romão, Luísa. "Translational switch during integrated stress response: the examples of p53 and UPF1". Paper presented in 25th Annual Meeting of the RNA Society, 2020. Ana Catarina Alves; Juliane Menezes; Luisa Romao; Mafalda Bourbom. "Functional Characterization Of Ldl Receptor Gene Variants Found In Patients With Clinical Diagnosis Of Familial Hypercholesterolemia". Paper presented in 87th EAS Congress, 2019. Fernandes, Rafael; Luísa Romão. "The PERK mRNA: an unexpected non-NMD-target". Paper presented in RNA 2019, 2019. Fernandes, Rafael; Luísa Romão. "Translational regulation mediated by upstream open reading frames in PERK mRNA". Paper presented in VIII National RNA Meeting: ptRNA2019, 2019. Ana Catarina Alves; Juliane Menezes; Luisa Romao; Mafalda Bourbom. "Functional and molecular characterization of putative variations in the LDL receptor gene in individuals with clinical diagnosis of Familial Hypercholesterolemia". Paper presented in Reunião Científica Riscar o Risco, 2019. Fernandes, Rafael; Luísa Romão. "Modulation of protein translation mediated by upstream open reading frames (uORFs) in PERK mRNA". Paper presented in 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2018. Fernandes, Rafael; Mafalda Bourbon; Luísa Romão. "The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR) in myocardial infarction". Paper presented in Encontro Ciência 2018, 2018. Fernandes, Rafael; Mafalda Bourbon; Luísa Romão. "The interplay between nonsense-mediated mRNA decay (NMD) and the unfolded protein response (UPR): implications for physiology and myocardial infarction". Paper presented in 8th Meeting on Signal Transduction, 2017. Ferrão, José; Onofre, C; Barbosa, C; Romão, Luísa. "Translational control of the human erythropoietin expression via an upstream open reading frame in cardiac tissue". Paper presented in Dia do Jovem Investigador do Instituto Ricardo Jorge 2017, 2017. Onofre C; Juliane Menezes; Peixeiro I; Barbosa C; Luisa Romao. "The mechanism through which translation-termination codons are recognized as premature". Paper presented in EMBO Conference: Eukaryotic RNA turnover, 2017. Onofre C; Juliane Menezes; Peixeiro I; Barbosa C; Luísa Romão. "The mechanism through which nonsense mutations are recognized as premature translation-termination codons". Paper presented in The European Human Genetics Conference, 2017. Marques-Ramos A; Juliane Menezes; Candeias MM; Lacerda R; Willcocks M; Alexandre Teixeira; Locker N; Luísa Romão. "Human mTOR mRNA allows cap-independent translation that insures its expression and function during inhibition of global translation". Paper presented in The annual meeting of the RNA society, 2017. Lacerda, Rafaela; Juliane Menezes; Luísa Romão. "Human AGO1 5'UTR mediates an eIF4G-enhanced but cap-independent mechanism of translation initiation". Paper presented in Dia do jovem investigador do Instituto Ricardo Jorge, 2017. Juliane Menezes; Rafaela Lacerda; Luísa Romão. "Expression of human UPF1 is regulated by a cap-independent translation initiation mechanism". Paper presented in Dia do jovem investigador do Instituto Ricardo Jorge, 2017. ana rita neves; Rafaela Lacerda; Marques-Ramos A; Luisa Romao; Matsuda, M; Candeias, Marco. "Characterization of an Internal Ribosome Entry Site (IRES) in p53 mRNA". Paper presented in The 22nd Annual Meeting of the RNA Society, 2017. Marques-Ramos A; Candeias, Marco M; Menezes J; Lacerda R; Millcocks M; Locker N; Luisa Romao. "Translation of human mTOR can be mediated by a cap-independent mechanism to insure its expression and function in conditions of global translation inhibition.". Paper presented in The 22nd Annual Meeting of the RNA Society, 2017. Neves, Ana Rita; Lacerda, Rafaela; Marques-Ramos, Ana; Romão, Luísa; Matsuda, M; Candeias, Marco. "Shorter p53 isoform expression through na Internal Ribosome Entry Site (IRES) in p53 mRNA". Paper presented in 21ª Reunião Anual Sociedade Portuguesa de Genética Humana. Genética da Medicina Personalizada: Cancro e Doenças Raras, 2017. Onofre, C; Ferrão, José; Barbosa, C; Romão, Luísa. "Regulation of the human erythropoietin expression via an upstream open reading frame in cardiac tissue". Paper presented in 20th Annual Meeting of the Portuguese Society of Human Genetics, 2016. Onofre C; Juliane Menezes; Peixeiro I; Barbosa C; Luisa Romao. "The interaction between mRNA translation and nonsense-mediated decay in AUG-proximal nonsense-mutated transcripts". Paper presented in FASEB Post-Transcriptional Control of Gene Expression: mRNA Decay, 2016. Onofre C; Juliane Menezes; Gomes-Duarte A; Peixeiro I; Barbosa C; Luisa Romao. "The interface between mRNA translation and nonsense-mediated decay in AUG-proximal nonsense-mutated transcripts". Paper presented in EMBO Conference The complex life of mRNA, 2016. Marques-Ramos A; Menezes, Juliane; Candeias, Marco; Willcocks, Mariam; Lacerda, Rafaela; Teixeira, Alexandre; Locker, Nicola; Romão, Luísa. "The human mTOR transcript allows cap-independent translation that insures its expression and function during inhibition of global translation". Paper presented in EMBO\| EMBL Symposium: The Complex Life of mRNA, 2016. Lacerda, Rafaela; Menezes, Juliane; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Human UPF1 translation initiation is regulated by a cap-independent mechanism". Paper presented in 19ª Reunião da Sociedade Portuguesa de Genética Humana, 2015. Onofre C; Juliane Menezes; Peixeiro I; Nuno Costa; Cristina Barbosa; Luísa Romão. "How mRNA translation is involved in modulating nonsense-mediated decay in transcripts with short open reading frames". Paper presented in RNP and disease in Marrakech, 2015. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "The expression of UPF1 is regulated by a cap-independent translation initiation mechanism and a cryptic promoter within its 5¿ untranslated region". Paper presented in 18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2014. Marques-Ramos, Ana; Menezes, Juliane; Lacerda, Rafaela; Teixeira, Alexandre; Romão, Luísa. "Identification of an IRES element in the human mTOR transcript: its structural and functional features". Paper presented in The 19th Annual Meeting of the RNA Society, 2014. Marques-Ramos A; Menezes, Juliane; Lacerda, Rafaela; Teixeira, Alexandre; Romão, Luísa. "Translational inhibitory conditions and mechanistic target of rapamycin (mTOR) protein expression ¿ an internal ribosome entry site (IRES) solves the problem". Paper presented in Translation UK 2014, 2014. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Analysis of the 5' untranslated region of human UPF1 mRNA indicates both cryptic promoter and internal ribosome entry site activity". Paper presented in The 19th Annual Meeting of the RNA Society, 2014. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Human Argonaute 1 5' untranslated region can mediate cap-independent translation initiation via an internal ribosome entry site". Paper presented in The 19th Annual Meeting of the RNA Society, 2014. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Human UPF1: a cap-independent translation initiation mechanism and a cryptic promoter regulate its gene expression in cancer cells". Paper presented in 1st ASPIC International Congress., 2014. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Analysis of human Argonaute 1 5¿ untranslated region shows internal ribosome entry site activity". Paper presented in EMBO Conference Series: Protein Synthesis and Translational Control, 2013. Marques-Ramos, Ana; Teixeira, Alexandre; Lacerda, Rafaela; Romão, Luísa. "Cap-independent translation regulation of mammalian target of rapamycin (mTOR)". Paper presented in The 18th annual meeting of the RNA Society, 2013. Marques-Ramos A; Rafaela Lacerda; Alexandre Teixeira; Luisa Romao. "Internal ribosome entry site-mediated translational regulation of mammalian target of rapamycin (mTOR) in stress conditions". Paper presented in EMBO Conference Series: Protein Synthesis and Translational Control, 2013. Lacerda, Rafaela; Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "The 5¿ untranslated region of human UPF1 mRNA shows both internal ribosome entry site and cryptic promoter activities". Paper presented in 17ª Reunião Anual Sociedade Portuguesa de Genética Humana, 2013. Marques-Ramos, Ana; Lacerda, Rafaela; Teixeira, Alexandre; Romão, Luísa. "The 5´ Untranslated Region of the mammalian Target of Rapamycin mRNA Harbors an Internal Ribosome Entry Site". Paper presented in 16ª Reunião Anual Sociedade Portuguesa de Genética Humana, 2012. Marques-Ramos, Ana; Teixeira, Alexandre; Romão, Luísa. "Bcl2 is produced by two transcript isoforms that present different post-transcriptional regulation mechanisms.". Paper presented in Portuguese RNA meeting, 2012, 2012. Marques-Ramos, Ana; Teixeira, Alexandre; Lacerda, Rafaela; Romão, Luísa. "Different Bcl2 transcripts coding the same protein have different posttranscriptional control mechanisms". Paper presented in 15ª Reunião da Sociedade Portuguesa de Genética Humana, 2011. Peixeiro, I.; Barbosa, C; Silva, Ana Luísa; Romão, Luísa. "Interactions between 5¿ and 3¿ end-associated proteins during mRNA translation protects AUG-proximal nonsense-mutated mRNAs from nonsense-mediated decay.". Paper presented in Biochemical Society meeting on Post-transcriptional control: mRNA translation, localization and turnover. Edinburgh, UK., 2010. Pereira, F.J.C.; Silva, Ana Luísa; Romão, Luísa. "How the secondary structure of the open reading frame affects the efficiency of nonsense-mediated decay in transcripts with AUG-proximal nonsense codons. .". Paper presented in Biochemical Society meeting on Post-transcriptional control: mRNA translation, localization and turnover. Edinburgh, UK, 2010. Morgado, A.; Teixeira, Alexandre; Silva, Ana Luísa; Romão, Luísa. "Abnormal nuclear distribution of human beta-globin transcripts committed to nonsense-mediated mRNA decay, in erythoid cells.". Paper presented in Biochemical Society meeting on Post-transcriptional control: mRNA translation, localization and turnover. Edinburgh, UK., 2010. Morgado, Ana; Teixeira, Alexandre; Silva, Ana Luísa; Romão, Luísa. "Human beta-globin transcripts commited to nonsense-mediated mRNA decay have na abnormal nuclear distribution in erythoid cells.". Paper presented in EMBO Workshop on RNA Quality Control, Vienna, Austria., 2010. Martins, Rute; Proença, Daniela; Silva, Bruno; Silva, Ana Luísa; Faustino, Paula; Romão, Luísa. "Nonsense-mediated mRNA decay (NMD) plays a role in post-transcriptional regulation of human HFE expression". Paper presented in EMBO Workshop on RNA Quality Control, Vienna, Austria., 2010. Pereira, Francisco J.C.; Silva, Ana Luísa; Romão, Luísa. "The secondary structure of the short open reading frame affects the extension of the AUG-proximity effect on nonsense-mediated mRNA decay". Paper presented in EMBO Workshop on RNA Quality Control, Vienna, Austria., 2010. Pereira, Francisco J.C.; Kong, Jian; Silva, Ana Luísa; Liebhaber, Stephen A.; Romão, Luísa. "The extention of the AUG-proximity effect on nonsense-mediated mRNA decay inhibition is modulated by the secondary structure of a short open reading frame in human alpha- and beta-globin transcripts". Paper presented in Vth National Meeting on RNA Biology, Carcavelos, Portugal., 2009. Peixeiro, Isabel; Barbosa, Cristina; Silva, Ana Luísa; Romão, Luísa. "PABPC1 protects AUG-proximal nonsense-mutated mRNAs from nonsense-mediated mRNA decay". Paper presented in EMBO Workshop on Messenger RNA 3¿ ends and gene expression, Brasenose College University of Oxford, Oxford, UK., 2009. Bruno Silva; Rute, Martins; Ana Luísa Silva; Daniela Proença; Paula Faustino; Luísa Romão. "Is the HFE expression regulated by an mRNA surveillance mechanism?". Paper presented in European Iron Club, St Gallen, Suiça, 18 a 20 de Setembro., 2008. Silva, Ana Luísa; Inácio, Ângela; Peixeiro, Isabel; Romão, Luísa. "A role for PABPC1 on mammalian nonsense-mediated mRNA decay". Paper presented in EMBO Conference on RNA and Disease, Villa Mondragone, Rome, Italy., 2008. Inácio, Ângela; Ramos, Ana; Silva, Ana Luísa; Romão, Luísa. "The translation termination reaction at an AUG-proximal stop codon appears to be as efficient as that at a normal termination codon". Paper presented in RNA 2008 - 13th Annual Meeting of the RNA Society , Berlin, Germany., 2008. Inácio, Ângela; Marques-Ramos A; Ana Luísa Silva; L Romão. "The translation termination reaction at an AUG proximal appears to be as efficient as that at a normal termination codon". Paper presented in 13th Annual Meeting of the RNA Society, 2008. Silva, Ana Luísa; Inácio, Ângela; Pereira, Francisco J.C.; Ribeiro, Patricia; Morgado, Ana; Faustino, Paula; Romão, Luísa. "The effect of a small open reading frame on the nonsense-mediated mRNA decay (NMD) mechanism". Paper presented in EMBO 1st Meeting on pre-mRNA Processing and Disease, Cortina D¿Ampezzo, Italy., 2007. Rute, Martins; Daniela Proença; Ana Luísa Silva; Paula Faustino; Luísa Romão. "Regulation of HFE transcripts by nonsense-mediated messenger RNA decay.". Paper presented in European Iron Club. London, UK., 2007. Rute, Martins; Luísa Romão; Paula Faustino. "Tissue-specific HFE transcripts due to alternative splicing or differential poly(A) signal usage.". Paper presented in 1st Meeting on ¿pre-mRNA processing and disease¿, Cortina, Itália., 2007. Silva, Ana Luísa; Martins, Rute; Ribeiro, Patricia; Faustino, Paula; Lavinha, João; Liebhaber, Stephen A.; Romão, Luísa. "¿AUG-proximity effect¿: Composition of ribonucleoprotein complexes associated with NMD-resistant beta-globin transcripts". Paper presented in FASEB Summer Research Conferences on Post-transcriptional Control of Gene expression: Mechanisms of mRNA Decay, Snowmass, Colorado,USA., 2006. Ana Isabel Mendes; Rute, Martins; Isabel, Picanço; Susana Gomes; Robalo Nunes, A; Jorge Esteves; Rita Fleming; Luísa Romão; Paula Faustino. "Mutation analysis of HFE, TFR2, HJV and HAMP genes in 106 Portuguese iron overloaded patients: identification of four novel mutations. 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais.". Paper presented in 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais., 2005. Susana Gomes; Cristina Ferreira; Maria do Céu Silva; Isabel Picanço; Armandina Miranda; Maria Teresa Seixas; Mafalda Oliveira; Luísa Romão; Paula Faustino. "Two novel hemoglobin variants: Hb Évora [alpha2-35 (B16), Ser>Pro] and Hb São Julião [beta-81 (EF5), Leu>Phe].". Paper presented in 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais., 2005. Pereira, Francisco J.C.; Kong, Jian; Silva, Ana Luísa; Faustino, Paula; Liebhaber, Stephen A.; Romão, Luísa. "The Human alfa- and beta-Globin mRNAs Present Comparable Nonsense-Mediated Decay (NMD) Profiles that Contradict the ¿-50 Rule¿". Paper presented in RNA 2005 - 10th Annual Meeting of the RNA Society , Banff, Canada., 2005. Ana Morgado; Isabel Picanço; Armandina Miranda; Maria Teresa Seixas; Luísa Romão; Paula Faustino. "Nova mutação pontual na posição -80 (G>A) do promotor do gene da delta-globina associada a delta-talassemia.". Paper presented in 9ª Reunião da Sociedade Portuguesa de Genética Humana, Cascais., 2005. Susana Gomes; Cristina Ferreira; Isabel Picanço; Filomena, Seuanes; Armandina Miranda; Maria Teresa Seixas; Luísa Romão; Paula Faustino. "Nova mutação no gene alfa2-globina origina variante de hemoglobina associada a fenótipo alfa-talassémico¿.". Paper presented in III Congresso de Análises Clínicas e Saúde Pública do INSA, Lisboa, Portugal., 2005. Ana Luísa Silva; Ana Morgado; Paula Faustino; Luísa Romão. "Study of the sequence background effect on the mechanism by which AUG-proximity of nonsense codons inhibits NMD.". Paper presented in EMBO Workshop, Arolla, Suiça., 2005. Ana Isabel Mendes; Rute Martins; Isabel Picanço; Susana Gomes; Luísa Romão; Paula Faustino. "Novel HFE mutations L46W and Y230F identified in non-C282Y iron overloaded patients.". Paper presented in First Congress on the International BioIron Society, Praga, República Checa, 2005. Rute Martins; Anabela Morais; Alexandra Dias; Isabel Soares; Cristiana Rolão; Isabel Picanço; Susana Gomes; et al. "Prevalence of HFE mutations in sickle cell disease.". Paper presented in First Congress on the International BioIron Society, Praga, República Checa., 2005. Rute Martins; Isabel Picanço; Luísa Romão; Paula Faustino. "A novel nonsense mutation Y138X in HFE gene associated with a hereditary hemochromatosis phenotype.". Paper presented in First Congress on the International BioIron Society, Praga, República Checa., 2005. Pereira, F.; Kong J,; Silva, AL.; Paula Faustino; Liebhaber SA; Luísa Romão. "Present Comparable Nonsense-Mediated Decay (NMD) Profiles that Contradict the ¿-50 Rule¿.". Paper presented in 10th Annual Meeting of the RNA Society. Banff, Canada., 2005. Cristina M. P. Ferreira; Armandina Miranda; Isabel Picanço; Vanda Almendra; Teresa Almeida; Maria Teresa Seixas; Luísa Romão; Paula Faustino. "Hemoglobina Loves Park originada por uma mutação de novo.". Paper presented in 8ª Reunião da Sociedade Portuguesa de Genética Humana, Porto., 2004. Rute Martins; Isabel Picanço; Baltazar Nunes; Luísa Romão; Paula Faustino. "HFE Gene Mutations C282Y, H63D and S65C are Extremely Rare in Western Sub-Saharian Africa.". Paper presented in European Iron Club, 2004, Rennes, France., 2004. Ângela Inácio; Ana Luísa Silva; Xinjun Ji; Ana Morgado; Paula Faustino; Stephen A. Liebhaber; Luísa Romão. "The strength of the human beta-globin nonsense-mediated mRNA decay depends on a position effect determinant.". Paper presented in Ninth Annual Meeting of the RNA Society ¿ RNA 2004, Madison Wisconsin, USA., 2004. Rute, Martins; Isabel Picanço; Aidil Fonseca; Lídia Ferreira; Odete Rodrigues; Marília Coelho; Armandina Miranda; et al. "Mutações no gene HFE e sobrecarga em ferro na beta-talassémia.". Paper presented in 7ª Reunião da Sociedade Portuguesa de Genética Humana. Lisboa., 2003. Maria do Céu Silva; Isabel, Picanço; Lénia Ferrão; Armandina Miranda; Maria Teresa Seixas; Luísa Romão; Paula Faustino. "Persistência Hereditária da Hemoglobina Fetal em Portadores de Beta-talassémia". Paper presented in 7ª Reunião da Sociedade Portuguesa de Genética Humana. Lisboa., 2003. Silva, Ana Luísa; Inácio, Ângela; Pinto, Joana; Almeida, Fátima; Liebhaber, Stephen A.; Romão, Luísa. "Exon 2 sequences in human ß-globin mRNAs protect mRNAs with 5¿- terminal nonsense mutations from accelerated (NMD) decay". Paper presented in RNA 2003, 8th Annual Meeting of the RNA Society, Vienna, Austria., 2003. Inácio, Ângela; Silva, Ana Luísa; Pinto, Joana; Ji, X; Faustino, Paula; Liebhaber, Stephen A.; Romão, Luísa. "Nonsense-mediated decay of mutant human ß-globin mRNAs appears to depend on a coding region determinant in exon 1.". Paper presented in RNA 2003, 8th Annual Meeting of the RNA Society, Vienna, Austria., 2003. Tiago Brazão; Deborah Penque; Paula Faustino; Luísa Romão. "Search for proteins involved in the human beta-globin nonsense-mediated mRNA decay.". Paper presented in 8th Annual Meeting of the RNA Society, Vienna, Austria., 2003. Ana Luísa Silva; Ângela Inácio; Joana Pinho; Fátima Almeida; Paula Faustino; Stephen A. Liebhaber; Luísa Romão. "Exon 2 sequences in human beta-globin mRNA protect mRNAs with 5¿-terminal nonsense mutations from accelerated (NMD) decay.". Paper presented in 8th Annual Meeting of the RNA Society, Vienna, Austria., 2003. Ângela Inácio; Ana Luísa Silva; Joana Pinto; Xinjun Ji; Paula Faustino; Stephen A. Liebhaber; Luísa Romão. "Nonsense-mediated decay of mutant b-globin mRNAs appears to depend on a coding region determinant in exon 1.". Paper presented in 8Th Annual Meeting of the RNA Society, Vienna, Austria., 2003. Brazão T,; Penque D; Paula Faustino; Luísa Romão. "Análise por proteómica de proteínas envolvidas no mecanismo de nonsense-mediated decay do RNA mensageiro da beta-globina humana. 6ª Reunião da Sociedade Portuguesa de Genética Humana. Porto". Paper presented in 6ª Reunião da Sociedade Portuguesa de Genética Humana. Porto, 2002. Silva, Ana Luísa; Pinto, Joana; Almeida, Fátima; Inácio, Ângela; Faustino, Paula; Beck, S; Lavinha, João; Romão, Luísa. "Identification of cis-acting determinants involved in the human ß-globin nonsense-mediated mRNA decay". Paper presented in 3th Conference on Hemoglobin Switching, Oxford United Kindom, 2002. Silva, Ana Luísa; Inácio, Ângela; Pinto, Joana; Almeida, Fátima; Faustino, Paula; Lavinha, João; Romão, Luísa. "Estudo do mecanismo da estabilidade do RNA mensageiro da ß-globina humana". Paper presented in Reunião da Sociedade Portuguesa de Genética Humana, Portugal, Porto., 2002.
Edited book	L Romão. Biomedicines Special Issue "mRNA Metabolism in Health and Disease 2.0".. Switzerland: MDPI. 2022. Editor Romão, Luísa. The mRNA Metabolism in Human Disease. Springer International Publishing. 2019. 10.1007/978-3-030-19966-1 Biomedicines Special Issue "mRNA Metabolism in Health and Disease". Basel, Switzerland: MDPI. 2019. Published • Editor
Journal article	Juan F. García-Moreno; Paulo Matos; Luísa Romão. "DIS3L2: Unveiling a New Player in Tumorigenesis, with a Key Role in Colorectal Cancer". Journal of Cellular Signaling 4 4 (2023): 169-177. http://dx.doi.org/10.33696/signaling.4.104. 10.33696/signaling.4.104 Juan F. García-Moreno; Rafaela Lacerda; Paulo J. da Costa; Marcelo Pereira; Margarida Gama-Carvalho; Paulo Matos; Luísa Romão. "DIS3L2 knockdown impairs key oncogenic properties of colorectal cancer cells via the mTOR signaling pathway". Cellular and Molecular Life Sciences 80 7 (2023): http://dx.doi.org/10.1007/s00018-023-04833-5. 10.1007/s00018-023-04833-5 Romão, Luísa. "The power of 2,6-diaminopurine in correcting UGA nonsense codons in CFTR mRNA". Molecular Therapy 31 4 (2023): 921-922. http://dx.doi.org/10.1016/j.ymthe.2023.03.009. 10.1016/j.ymthe.2023.03.009 Maria José López-Iniesta; Shrutee N. Parkar; Ana Catarina Ramalho; Rafaela Lacerda; Inês F. Costa; Jingyuan Zhao; Luísa Romão; Marco M. Candeias. "Conserved Double Translation Initiation Site for delta160p53 Protein Hints at Isoform's Key Role in Mammalian Physiology". International Journal of Molecular Sciences 23 (2022): https://doi.org/10.3390/ijms232415844. 10.3390/ijms232415844 Romão, Luísa. "mRNA Metabolism in Health and Disease". Biomedicines 10 9 (2022): 2262. http://dx.doi.org/10.3390/biomedicines10092262. 10.3390/biomedicines10092262 Rita Marques; Rafaela Lacerda; Luísa Romão. "Internal Ribosome Entry Site (IRES)-Mediated Translation and Its Potential for Novel mRNA-Based Therapy Development". Biomedicines (2022): https://www.mdpi.com/2227-9059/10/8/1865. 10.3390/biomedicines10081865 Marques, Ana Rita; Santos, João Xavier; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Luísa Romão; Astrid M Vicente. "Gene variants involved in nonsense-mediated mRNA decay suggest a role in Autism Spectrum Disorder". Biomedicines (2022): Accepted Maria López-Iniesta; Rafaela Lacerda Santos; Ana Catarina Rama; Lina Miyawaki; Bruna Pereira; Shrutee N. Parkar; Ana Marques-Ramos; et al. "Ambivalent cancer mutations activate oncogene in p53 via mRNA restructuring". Springer Nature (2022): Under revision Gonçalo Nogueira; Rafael Fernandes; Juan F. García-Moreno; Luísa Romão. "Nonsense-mediated RNA decay and its bipolar function in cancer". Molecular Cancer (2021): https://doi.org/10.1186/s12943-021-01364-0. 10.1186/s12943-021-01364-0 Graça, Rafael; Fernandes, Rafael; Alves, Ana Catarina; Menezes, Juliane; Romão, Luísa; Bourbon, Mafalda. "Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes". Biomedicines 9 9 (2021): 1219. http://dx.doi.org/10.3390/biomedicines9091219. Published • 10.3390/biomedicines9091219 Silva, Joana; Nina, Pedro; Romão, Luísa. "Translation of ABCE1 Is Tightly Regulated by Upstream Open Reading Frames in Human Colorectal Cells". Biomedicines 9 8 (2021): 911. http://dx.doi.org/10.3390/biomedicines9080911. Published • 10.3390/biomedicines9080911 Patrícia Martins-Dias; Luísa Romão. "Nonsense suppression therapies in human genetic diseases". Cellular and Molecular Life Sciences 78 10 (2021): 4677-4701. https://doi.org/10.1007/s00018-021-03809-7. 10.1007/s00018-021-03809-7 García-Moreno, Juan F.; Romão, Luísa. "Perspective in alternative splicing coupled to nonsense-mediated mRNA decay". International Journal of Molecular Sciences 21 24 (2020): 9424. http://dx.doi.org/10.3390/ijms21249424. Published • 10.3390/ijms21249424 Paulo J. da Costa; Juliane Menezes; Margarida Saramago; Juan F. García-Moreno; Hugo A. Santos; Margarida Gama-Carvalho; Cecília M. Arraiano; Sandra C. Viegas; Luísa Romão. "Experimental supporting data on DIS3L2 over nonsense-mediated mRNA decay targets in human cells". Data in Brief 28 (2020): 104943-104943. https://doi.org/10.1016/j.dib.2019.104943. 10.1016/j.dib.2019.104943 Paulo Costa; Menezes, Juliane; Margarida Saramago; Juan García-Moreno; Hugo Santos; Margarida Gama-Carvalho; Cecilia Arraiano; Sandra Viegas; Luisa Romao. "A role for DIS3L2 over natural nonsense-mediated mRNA decay targets in human cells". Biochemical and Biophysical Research Communications (2019): http://dx.doi.org/10.1016/j.bbrc.2019.08.105. 10.1016/j.bbrc.2019.08.105 Silva, Joana; Fernandes, Rafael; Romão, Luísa. "Translational regulation by upstream open reading frames and human diseases". Advances in Experimental Medicine and Biology 1157 (2019): 99-116. Published • 10.1007/978-3-030-19966-1_5 Fernandes, Rafael; Nogueira, Gonçalo R.; da Costa, Paulo J.; Pinto, Francisco; Romão, Luísa. "Nonsense-mediated mRNA decay in development, stress and cancer". Advances in Experimental Medicine and Biology 1157 (2019): 41-83. Published • 10.1007/978-3-030-19966-1_3 Paulo J. da Costa; Juliane Menezes; Margarida Saramago; Juan F. García-Moreno; Hugo A. Santos; Margarida Gama-Carvalho; Cecília M. Arraiano; Sandra C. Viegas; Luisa Romao. "A role for DIS3L2 over human nonsense-mediated mRNA decay targets". bioRxiv (2019): Alves, Inês Teles Siefers; Condinho, Manuel; Custódio, Sónia; Pereira, Bruna F.; Fernandes, Rafael; Gonçalves, Vânia; da Costa, Paulo J.; et al. "Genetics of personalized medicine: cancer and rare diseases". Cellular Oncology 41 3 (2018): 335-341. http://dx.doi.org/10.1007/s13402-018-0379-3. 10.1007/s13402-018-0379-3 Gomes-Duarte, Andreia; Lacerda, Rafaela; Menezes, Juliane; Romão, Luísa. "eIF3: a factor for human health and disease". RNA Biology 15 1 (2017): 26-34. http://dx.doi.org/10.1080/15476286.2017.1391437. 10.1080/15476286.2017.1391437 Menezes, Juliane; Ventura, Célia; Costa, João Matos; Parreira, Elsa; Romão, Luísa; Gonçalves, João. "PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease". Clinical Case Reports 5 12 (2017): 2062-2065. http://dx.doi.org/10.1002/ccr3.1226. 10.1002/ccr3.1226 da Costa, Paulo J.; Menezes, Juliane; Romão, Luísa. "The role of alternative splicing coupled to nonsense-mediated mRNA decay in human disease". The International Journal of Biochemistry & Cell Biology 91 (2017): 168-175. http://dx.doi.org/10.1016/j.biocel.2017.07.013. 10.1016/j.biocel.2017.07.013 Marques-Ramos, Ana; Candeias, Marco M.; Menezes, Juliane; Lacerda, Rafaela; Willcocks, Margaret; Teixeira, Alexandre; Locker, Nicolas; Romão, Luísa. "Cap-independent translation ensures mTOR expression and function upon protein synthesis inhibition". RNA 23 11 (2017): 1712-1728. http://dx.doi.org/10.1261/rna.063040.117. 10.1261/rna.063040.117 Rafaela Lacerda; Juliane Menezes; Luísa Romão. "More than just scanning: the importance of cap-independent mRNA translation initiation for cellular stress response and cancer". Cellular and Molecular Life Sciences (2017): https://doi.org/10.1007%2Fs00018-016-2428-2. 10.1007/s00018-016-2428-2 Silva, Joana; Romão, Luísa. "Gene expression regulation by upstream open reading frames in rare diseases". Journal of Rare Diseases Research & Treatment 2 (2017): 33-38. Pereira, Francisco J. C.; Teixeira, Alexandre; Kong, Jian; Barbosa, Cristina; Silva, Ana Luisa; Marques-Ramos, Ana; Liebhaber, Stephen A.; Romao, Luisa. "Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity". Nucleic Acids Research 43 13 (2015): 6528-6544. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000359776500033&KeyUID=WOS:000359776500033. 10.1093/nar/gkv588 Onofre, Claudia; Tome, Filipa; Barbosa, Cristina; Silva, Ana Luisa; Romao, Luisa. "Expression of Human Hemojuvelin (HJV) Is Tightly Regulated by Two Upstream Open Reading Frames in HJV mRNA That Respond to Iron Overload in Hepatic Cells". Molecular and Cellular Biology 35 8 (2015): 1376-1389. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000351741500006&KeyUID=WOS:000351741500006. 10.1128/MCB.01462-14 Barbosa, Cristina; Romao, Luisa. "Translation of the human erythropoietin transcript is regulated by an upstream open reading frame in response to hypoxia". Rna-a Publication of the Rna Society 20 5 (2014): 594-608. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000334677800002&KeyUID=WOS:000334677800002. 10.1261/rna.040915.113 Barbosa, C.; Peixeiro, I.; Romão, L.. "Gene Expression Regulation by Upstream Open Reading Frames and Human Disease". PLoS Genetics 9 8 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84884660617&partnerID=MN8TOARS. 10.1371/journal.pgen.1003529 Brazão, T.F.; Demmers, J.; Van Ijcken, W.; Strouboulis, J.; Fornerod, M.; Romão, L.; Grosveld, F.G.. "A new function of ROD1 in nonsense-mediated mRNA decay". FEBS Letters 586 8 (2012): 1101-1110. http://www.scopus.com/inward/record.url?eid=2-s2.0-84859918951&partnerID=MN8TOARS. 10.1016/j.febslet.2012.03.015 Morgado, A.; Almeida, F.; Teixeira, A.; Silva, A.L.; Romão, L.. "Unspliced precursors of NMD-sensitive beta-globin transcripts exhibit decreased steady-state levels in erythroid cells". PLoS ONE 7 6 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84861855326&partnerID=MN8TOARS. 10.1371/journal.pone.0038505 Peixeiro, I.; Inácio, A.; Barbosa, C.; Silva, A.L.; Liebhaber, S.A.; Romão, L.. "Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations". Nucleic Acids Research 40 3 (2012): 1160-1173. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856875524&partnerID=MN8TOARS. 10.1093/nar/gkr820 Martins, R.; Proença, D.; Silva, B.; Barbosa, C.; Silva, A.L.; Faustino, P.; Romão, L.. "Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels". PLoS ONE 7 4 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84859992171&partnerID=MN8TOARS. 10.1371/journal.pone.0035461 Peixeiro, I.; Silva, A.L.; Romão, L.. "Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype". Haematologica 96 6 (2011): 905-913. http://www.scopus.com/inward/record.url?eid=2-s2.0-79958192752&partnerID=MN8TOARS. 10.3324/haematol.2010.039206 Silva, A.L.; Romão, L.. "The mammalian nonsense-mediated mRNA decay pathway: To decay or not to decay! Which players make the decision?". FEBS Letters 583 3 (2009): 499-505. http://www.scopus.com/inward/record.url?eid=2-s2.0-58649117962&partnerID=MN8TOARS. 10.1016/j.febslet.2008.12.058 Brazao, T.; Demmers, J.; Romao, L.; Grosveld, F.; Strouboulis, J.. "Proteomic analysis of Upf2-containing complexes". Febs Journal 275 (2008): 70-70. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000256633300191&KeyUID=WOS:000256633300191. Silva, A.L.; Ribeiro, P.; Inácio, Â.; Liebhaber, S.A.; Romão, L.. "Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay". RNA 14 3 (2008): 563-576. http://www.scopus.com/inward/record.url?eid=2-s2.0-40449131535&partnerID=MN8TOARS. 10.1261/rna.815108 Martins, R.; Morais, A.; Dias, A.; Soares, I.; Rolão, C.; Ducla-Soares, J.L.; Braga, L.; et al. "Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism". Journal of Human Genetics 53 6 (2008): 524-528. http://www.scopus.com/inward/record.url?eid=2-s2.0-44449151454&partnerID=MN8TOARS. 10.1007/s10038-008-0281-3 Inácio, Â.; Silva, A.L.; Morgado, A.; Pereira, F.J.C.; Lavinha, J.; Romão, L.. "Comment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'". European Journal of Human Genetics 15 5 (2007): 533-534. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247871495&partnerID=MN8TOARS. 10.1038/sj.ejhg.5201808 Morgado, A.; Picanço, I.; Gomes, S.; Miranda, A.; Coucelo, M.; Seuanes, F.; Seixas, M.T.; Romão, L.; Faustino, P.. "Mutational spectrum of delta-globin gene in the Portuguese population". European Journal of Haematology 79 5 (2007): 422-428. http://www.scopus.com/inward/record.url?eid=2-s2.0-35048844162&partnerID=MN8TOARS. 10.1111/j.1600-0609.2007.00949.x Gomes, S.; Picanço, I.; Miranda, A.; Seixas, M.T.; Oliveira, M.; Romão, L.; Faustino, P.. "Hb Évora [alpha2-35 (B16), Ser->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype". Haematologica 92 2 (2007): 252-253. http://www.scopus.com/inward/record.url?eid=2-s2.0-33947522014&partnerID=MN8TOARS. 10.3324/haematol.10790 Modell, B.; Darlison, M.; Birgens, H.; Cario, H.; Faustino, P.; Giordano, P.C.; Gulbis, B.; et al. "Epidemiology of haemoglobin disorders in Europe: An overview". Scandinavian Journal of Clinical and Laboratory Investigation 67 1 (2007): 39-69. http://www.scopus.com/inward/record.url?eid=2-s2.0-33846957753&partnerID=MN8TOARS. 10.1080/00365510601046557 Ferreira, C.; Hoyer, J.D.; Miranda, A.; Picanço, I.; Almendra, V.; Seixas, M.T.; Almeida, T.; Romão, L.; Faustino, P.. "Hemoglobin Loves Park [beta68 (E12) Leu->Phe]: Report of five cases including one originating from a de novo mutation". American Journal of Hematology 81 4 (2006): 256-261. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645713471&partnerID=MN8TOARS. 10.1002/ajh.20548 Silva, A.L.; Pereira, F.J.C.; Morgado, A.; Kong, J.; Martins, R.; Faustino, P.; Liebhaber, S.A.; Romão, L.. "The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context". RNA 12 12 (2006): 2160-2170. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845236590&partnerID=MN8TOARS. 10.1261/rna.201406 Pereira, F.J.C.; Silva, M.D.C.; Picanço, I.; Seixas, M.T.; Ferrão, A.; Faustino, P.; Romão, L.. "Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22". British Journal of Haematology 133 1 (2006): 98-102. http://www.scopus.com/inward/record.url?eid=2-s2.0-33644640892&partnerID=MN8TOARS. 10.1111/j.1365-2141.2006.05971.x Inácio, Ângela; Silva, Ana Luísa; Romão, Luísa. "Mechanisms of the human beta-globin mRNA stability". Journal of Biological Sciences 5 1 (2005): 21-32. http://docsdrive.com/pdfs/ansinet/jbs/2005/21-32.pdf. Published • 10.1093/nar/26.3.721 Inacio, Angela; Silva, Ana Luisa; Romão, Luísa. "Mechanisms of the Human ß-globin mRNA Stability". Journal of Biological Sciences 5 1 (2005): 21-32. http://dx.doi.org/10.3923/jbs.2005.21.32. Martins, R.; Picano, I.; Nunes, B.; Romão, L.; Faustino, P.. "HFE gene mutations are extremely rare in Western sub-Saharan Africa". Annals of Hematology 84 10 (2005): 686-688. http://www.scopus.com/inward/record.url?eid=2-s2.0-27644468641&partnerID=MN8TOARS. 10.1007/s00277-005-1036-2 Inácio, Ângela; Ana Luísa Silva; Luísa Romão. "Mechanisms of the human B-globin mRNA stability". Journal of Biological Sciences 5 1 (2005): 21-32. http://docsdrive.com/pdfs/ansinet/jbs/2005/21-32.pdf. Accepted Faustino, P.; Miranda, A.; Do Céu Silva, M.; Alves, C.; Picanço, I.; Ferreira, C.; Seixas, M.T.; Pina, F.; Romão, L.. "Hb Yaoundé [beta134(H12)Val->Ala] in association with Hb C [beta6(A3)Glu->Lys] in a Caucasian Portuguese family". Hemoglobin 28 3 (2004): 229-235. http://www.scopus.com/inward/record.url?eid=2-s2.0-4544332593&partnerID=MN8TOARS. 10.1081/HEM-120040259 Martins, R.; Picanço, I.; Fonseca, A.; Ferreira, L.; Rodrigues, O.; Coelho, M.; Seixas, T.; et al. "The role of HFE mutations on iron metabolism in beta-thalassemia carriers". Journal of Human Genetics 49 12 (2004): 651-655. http://www.scopus.com/inward/record.url?eid=2-s2.0-19944430346&partnerID=MN8TOARS. 10.1007/s10038-004-0202-z Inácios, Â.; Silva, A.L.; Pinto, J.; Ji, X.; Morgado, A.; Almeida, F.; Faustino, P.; et al. "Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay". Journal of Biological Chemistry 279 31 (2004): 32170-32180. http://www.scopus.com/inward/record.url?eid=2-s2.0-3543012545&partnerID=MN8TOARS. 10.1074/jbc.M405024200 Brazao, T; Almeida, F; Miranda, A; Lavinha, J; Romao, L. "Suppression analysis of the human beta-globin nonsense mutation CD15 (TGG -> TGA).". Blood Cells Molecules and Diseases 31 1 (2003): 162-163. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184101400137&KeyUID=WOS:000184101400137. Faustino, P; Reis, AB; Feliciano, H; Ferrao, L; Pereira, P; Picanco, I; Miranda, A; et al. "In vivo fetal/adult switch inhibition.". Blood Cells Molecules and Diseases 31 1 (2003): 140-141. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184101400066&KeyUID=WOS:000184101400066. Silva, AL; Pinto, J; Almeida, F; Inacio, A; Faustino, P; Beck, S; Lavinha, J; Romao, L. "Identification of cis-acting determinants involved in the human beta-globin nonsense-mediated mRNA decay.". Blood Cells Molecules and Diseases 31 1 (2003): 164-164. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184101400144&KeyUID=WOS:000184101400144. Inacio, A; Ji, X; Liebhaber, SA; Romao, L. "High levels of beta 15 nonsense-mutated beta-globin mRNA are not due to a translation re-initiation.". Blood Cells Molecules and Diseases 31 1 (2003): 147-147. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000184101400088&KeyUID=WOS:000184101400088. Morgado, A; Picanco, I; Miranda, A; Seixas, T; Lavinha, J; Romao, L; Faustino, P. "Molecular pathology of the delta-globin gene in the Portuguese population". European Journal of Human Genetics 10 (2002): 203-203. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000187166100699&KeyUID=WOS:000187166100699. Faustino, P.; Picanço, I.; Miranda, A.; Seixas, T.; Ferrão, A.; Morais, A.; Lavinha, J.; Romão, L.. "Compound heterozygosity for Hb Spanish Town [alpha27(B8)Glu->Val], Hb S [beta6(A3)Glu->Val] and the -alpha(3.7 kb) thalassemia deletion". Hemoglobin 26 2 (2002): 185-189. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036062575&partnerID=MN8TOARS. 10.1081/HEM-120005458 Faustino, P.; Reis, A.B.; Feliciano, H.; Ferrão, L.; Pereira, P.; Picanço, I.; Miranda, A.; et al. "Asymptomatic homozygous deletional beta0-thalassemia in an African individual". American Journal of Hematology 70 3 (2002): 232-236. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036085762&partnerID=MN8TOARS. 10.1002/ajh.10118 Romão L; Inácio A; Santos S; Avila M; Faustino P; Pacheco P; Lavinha J. "Nonsense mutations in the human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation.". (2000): http://europepmc.org/abstract/med/11023527. Romäo, L.; Inácio, A.; Santos, S.; Ávila, M.; Faustino, P.; Pacheco, P.; Lavinha, J.; et al. "Nonsense mutations in human beta-globin gene lead to unexpected levels of cytoplasmic mRNA accumulation". Blood 96 8 (2000): 2895-2901. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034667531&partnerID=MN8TOARS. Romao, L; Santos, S; Lavinha, J. "Identification of genomic sequences that regulate cytoplasmic beta-globin mRNA accumulation". European Journal of Human Genetics 6 (1998): 128-128. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000074522800550&KeyUID=WOS:000074522800550. Faustino, P.; Osório-Almeida, L.; Rom~ao, L.; Barbot, J.; Fernandas, B.; Justiça, B.; Lavinha, J.; et al. "Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide". Blood 91 2 (1998): 685-690. http://www.scopus.com/inward/record.url?eid=2-s2.0-2642611952&partnerID=MN8TOARS. Peres, MJ; Romao, L; Carreiro, H; Picanco, I; Batalha, L; Magalhaes, HA; Martins, MC; et al. "Molecular basis of alpha-thalassemia in Portugal". Hemoglobin 19 6 (1995): 343-352. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1995TK47100003&KeyUID=WOS:A1995TK47100003. 10.3109/03630269509005826 Faustino, P.; Osorio-Almeida, L.; Barbot, J.; Espirito-Santo, D.; Goncalves, J.; Romao, L.; Martins, M.C.; Marques, M.M.; Lavinha, J.. "Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population". Human Genetics 89 5 (1992): 573-576. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026767505&partnerID=MN8TOARS. Lavinha, J.; Gonçalves, J.; Faustino, P.; Romão, L.; Osório-Almeida, L.; Peres, M.J.; Picanço, I.; et al. "Importation route of the sickle cell trait into Portugal: contribution of molecular epidemiology". Human Biology 64 6 (1992): 891-901. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026973150&partnerID=MN8TOARS. Romao, L.; Cash, F.; Weiss, I.; Liebhaber, S.; Pirastu, M.; Galanello, R.; Loi, A.; et al. "Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene". Human Genetics 89 3 (1992): 323-328. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026704104&partnerID=MN8TOARS. PERES, MJ; PICANCO, I; ALMEIDA, S; ROMAO, L; MORAIS, S; CARREIRO, MH; MARTINS, MC; LAVINHA, J. "POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE ALPHA-GLOBIN GENE-CLUSTER (16P13.3-PTER) IN THE PORTUGUESE POPULATION". Cytogenetics and Cell Genetics 60 3-4 (1992): 175-175. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:A1992JK23000024&KeyUID=WOS:A1992JK23000024. Romao, L.; Osorio-Almeida, L.; Higgs, D.R.; Lavinha, J.; Liebhaber, S.A.. "Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes". Blood 78 6 (1991): 1589-1595. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026042157&partnerID=MN8TOARS. Romao, L.; Olim, G.; Martins, M.C.; Rodrigues, V.; Coutinho-Gomes, M.P.; Lavinha, J.. "Unusual molecular basis of Hb H disease in the Azores Islands, Portugal". Hemoglobin 14 6 (1990): 607-616. http://www.scopus.com/inward/record.url?eid=2-s2.0-0025552760&partnerID=MN8TOARS. Paula Faustino; João Gonçalves; Leonor Osório-Almeida; Luísa Romão; "João Lavinha". "Contribuição da análise de polimorfismos de DNA para a prevenção da beta-talassémia e da talassodrepanocitose na população residente em Portugal.". Arquivos do Instituto Nacional de Saúde XIV (1989): 237-243.
Preprint	Shrutee N. Parkar; Maria José López-Iniesta; Ramalho, Ana Catarina; Koto Kimura; Jingyuan Zhao; Filipa da Silva Rita; Romão, Luísa; Candeias, Marco M. "delta246p53 is a new p53 isoform that responds to DNA damage and regulates tumour growth". 2023. http://dx.doi.org/10.1101/2023.04.07.536059. 10.1101/2023.04.07.536059 López-Iniesta, Maria José; Lacerda, Rafaela; Ramalho, Ana Catarina; Parkar, Shrutee N.; Marques-Ramos, Ana; Pereira, Bruna; Miyawaki, Lina; et al. "Internal Translation of p53 Oncoproteins During Integrated Stress Response Confers Survival Advantage on Cancer Cells". 2023. http://dx.doi.org/10.1101/2023.03.03.531004. 10.1101/2023.03.03.531004
Thesis / Dissertation	Romão, Luísa. "Expression studies of the human alpha globin genes". PhD, 1994.
Working paper	Rafael FernandesED1C-61D9-D2D3; Luísa Romão. 2020. "Upstream open reading frames (uORFs) as translational regulators in human disease". https://atlasofscience.org/upstream-open-reading-frames-uorfs-as-translational-regulators-in-human-disease/. Luísa Romão; Rafael FernandesED1C-61D9-D2D3. 2020. "Nonsense-mediated mRNA decay (NMD): a bifunctional mechanism in human physiology and disease". :https://atlasofscience.org/nonsense-mediated-mrna-decay-nmd-a-bifunctional-mechanism-in-human-physiology-and-disease/.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2021/11/18	Learning from mRNA: the relevance of the tumour suppressor protein UPF1 internal ribosome entry site-mediated translation in tumorigenesis
2021/11/18	Internal ribosome entry site (IRES)-mediated translation as a putative candidate mechanism to mRNA-based therapies	25.ª Reunião anual da Sociedade Portuguesa de Genética Humana (Portugal)
2020/11/20	The tumor suppressor p53 acquires oncogenic functions due to a translational switch during integrated stress response	24ª Reunião Científica da Sociedade Portuguesa de Genética Humana (Portugal)
2019	Mechanistic aspects of nonsense-mediated mRNA decay in human cells	RNA Meeting: ptRNA 2019 (Porto, Portugal)
2018	Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorder	22ª Reunião da Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2018	Common p53 mutations induce IRES-mediated translation of oncogenic shorter p53 isoforms	22ª Reunião da Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2017/11/16	IRES-dependent translation of shorter p53 isoforms is affected by mutations in p53	21ª Reunião da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2017/11/16	Behind the curtain: unveiling DIS3L2 role in NMD and human cancer	21ª Reunião da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2017/07/10	An unexpected role for DIS3L2 over human NMD targets. EMBO conference	EMBO Conference: Eukaryotic RNA turnover (Oxford, United Kingdom)
2017	A network integrative approach to unravel new links between NMD and mRNA processing pathways	17th FEBS Young Scientists’ Forum (Jerusalem, Israel)
2017	Regulatory RNAs targeted by Copy Number Variation in Autism Spectrum Disorder	21ª Reunião da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2016	The interplay between mRNA translation and nonsense-mediated decay in transcripts with short open reading frames	1st International Caparica Conference in Splicing - Splicing 2016 (Caparica, Portugal)
2016	How mRNA translation is involved in modulating nonsense-mediated decay in transcripts with AUG-proximal nonsense mutations	17th Edition of Portugaliæ Genetica (Porto, Portugal)
2015	Human mTOR transcript contains an IRES element that guarantees its expression and function under global translation impairing conditions	19ª Reunião da Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2015	How mRNA translation is involved in modulating nonsense-mediated decay in transcripts with short open reading frames	RNP & Disease Conference (Marrakesh, Morocco)
2015	Identification of an IRES element in the human mTOR transcript that insures its expression and function during inhibition of global translation	EMBO/EMBL Symposium on Protein Synthesis and Translational Control. (Heidelberg, Germany)
2014	The interplay between mRNA translation and nonsense-mediated decay in AUG-proximal nonsense-mutated transcripts	Perelman School of Medicine, University of Pennsylvania (Philadelphia, United States)
2014	The expression of UPF1 is regulated by a cap-independent translation initiation mechanism and a cryptic promoter within its 5’ untranslated region	XVIII Reunião Anual da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2013	How the interaction of PABPC1 with the translation initiation complex inhibits nonsense-mediated decay of transcripts with an AUG-proximal nonsense codon	EMBO/EMBL Symposium on “Protein Synthesis and Translational Control” (Heidelberg, Germany)
2012	MLH1 and DCC, two genes involved in colorectal cancer, have different mechanisms of translation initiation	XVI Reunião Anual da Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2012	Nonsense-mediated decay resistance of AUG-proximal nonsense-mutated transcripts relies on the interaction of PABPC1 with the translation initiation complex	FEBS International Workshop on “New Developments in RNA Biology" (Tavira, Portugal)
2012	Analysis of the divergences in the nonsense-mediated mRNA decay mechanism among two globin transcripts highly conserved	15th Portugaliæ Genetica (Porto, Portugal)
2012	Translation initiation factors are involved in the mechanism of NMD resistance of mRNAs carrying a short open reading frame	VIrd Portuguese RNA Meeting (Lisboa)
2011	The role of mRNA translation on nonsense-mediated decay inhibition in disorders due to nonsense mutations	XV Reunião da Sociedade Portuguesa de Genética Humana (L, Portugal)
2010	Post-transcriptional control of hemojuvelin gene expression and its relevance on iron homeostasis	XIV Reunião da Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2009	Mammalian nonsense-mediated mRNA decay: a role for PABPC1 in the NMD-resistance of transcripts bearing AUG-proximal premature termination codons	Vrd National RNA Biology Meeting (Carcavelos, Portugal)
2009	Does nonsense-mediated messenger RNA decay play a role in post-transcriptional regulation of HFE?	Vrd National RNA Biology Meeting (Carcavelos, Portugal)
2008	The role of PABPC1 on mammalian nonsense-mediated mRNA decay	IX Symposium on Mechanisms of Gene Expression (Porto, Portugal)
2007	A role for PABPC1 on the NMD inhibition of mammalian transcripts carrying a short ORF	EMBO/EMBL Symposium on "The Complex Life of RNA" (Heidelberg, Germany)
2007	The effect of the open reading frame length and sequence on nonsense-mediated decay efficiency of human alpha-globin mRNA	IVth National RNA Biology Meeting (Vimeiro, Portugal)
2007	The involvement of PABPC1 in nonsense-mediated decay inhibition of human beta-globin transcripts carrying a short open reading frame	11ª Reunião da Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2007	The proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated decay	IVth National RNA Biology Meeting (Vimeiro, Portugal)
2005	UDP-Glucuronosyltransferase 1A gene promoter polymorphism influences cholelithiasis in sickle cell disease	15th Meeting of the European Association for Red Cell Research (Murten, Switzerland)
2005	Genetic Modifiers of Morbidity in Sickle Cell Disease	9th Annual Meeting of the Portuguese Society of Human Genetics & 3rd Annual Meeting of the ProCura – Portuguese Proteomics Network (Cascais, Portugal)
2004	Study of the human beta-globin nonsense-mediated mRNA decay	Workshop on Gene Expression and Cellular Responses (Porto, Portugal)
2004	Study of the human beta-globin nonsense-mediated mRNA decay	7ª Reunião da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2003	Study of the human beta-globin nonsense-mediated mRNA decay	Workshop on "The life of an mRNA" (Porto, Portugal)
2003	Study of the human beta-globin nonsense-mediated mRNA decay	7ª Reunião da Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
2001	Nonsense-mediated mRNA decay: Identification of a putative regulatory element in the beta-globin gene	XIII Meeting of the European Association for Red Cell Research (Barcelona, Spain)
1998	The effect of beta-thalassemia nonsense mutations in the cytoplasmic b-globin mRNA accumulation	Workshop on the Cellular Heterogeneity of Gene Expression and Somatic Variegation (Annecy, France)

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2021/10/25 - Current	A tradução não-canónica da proteína UPF1 (up-frameshift 1) e a sua relevância na tumorigénese do cancro colorretal Co-supervisor
2020/11/01 - Current	Unraveling the oncogenic functions and regulation of the most conserved p53 isoform, ¿160p53: a study in cancer cells and transgenic mice Co-supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2020/09/01 - Current	Internal ribosome entry site (IRES)-mediated protein synthesis in colorectal cancer progression Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2018 - Current	The involvement of DIS3L2 in nonsense-mediated mRNA decay and its functional networks in cancer Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - Current	The interplay between the mechanisms of PTC definition, mRNA translation, and NMD Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - Current	Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues Co-supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019/09/01 - 2022/02/24	Regulation of the human erythropoietin expression via an upstream open reading frame in muscle, cardiac and neuronal tissue, and its impact in possible ischemic scenarios Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019/09/01 - 2022/01/28	Identification of a novel set of proteins as NMD intervenients Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2018/10/01 - 2021/06/17	Tradução independente de cap da proteína humana up-frameshift 1 (UPF1) e cancro Supervisor	Universidade de Lisboa Faculdade de Medicina, Portugal
2020/09/01 - 2021/04/21	Investigating the role of p53 mRNA elements on the translation of different oncogenic proteins Co-supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019/09/01 - 2021/03/31	Identification of mTOR and AGO1 internal ribosome entry site trans-acting factors Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019 - 2020	The role of ITAFs in IRES-mediated protein synthesis in cancer progress Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019 - 2020	Translation regulation of human erythropoietin by an upstream open reading frame and its impact on myocardial ischemia Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2019 - 2020	Identify new non-coding functions and binding partners of p53 mRNA in cancer and health Co-supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2020	u0RF-mediated translational regulation of PERK: implications for cell homeostasis and human disease Supervisor	Biologia (PhD) Universidade de Lisboa Faculdade de Ciências, Portugal
2013 - 2020	mTOR IRES element Supervisor
2017 - 2019	Study of human Argonaute 1 cap-independent translation Supervisor	Bioquímica (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2015 - 2019	Analysis of translation of 5´ untranslated regions in cancer Supervisor	Biologia (PhD) Universidade de Lisboa Faculdade de Ciências, Portugal
2018 - 2018	Study on the regulation of the expression of alternative protein isoforms involved in carcinogenesis Co-supervisor	Bioquímica (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2018	Identification and characterization of internal ribosome entry sites (IRESs) in cancer pathways Co-supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2018	Identification and characterization of Internal Ribosome Entry Sites (IRES) in cancer pathways Co-supervisor	Bioquímica (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2015 - 2018	"The human mRNA decay machinery : an unexpected role for DIS3L2 over nonsense -mediated decay targets" Supervisor	Biologia (PhD) Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - 2017	Establishment of a suppression therapy for beta-thalassemia due to a nonsense mutation Supervisor	Bioquímica (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2016	The effect of G418 and PTC124 as suppression therapy for Beta Thalassemia Supervisor	Biologia Molecular e Genética (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2016	Autism spectrum disorder (ASD): genetic, epigenetic and environmental issues Co-supervisor	Biologia (PhD) Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2016	The role of SMG6 and PM/SCL100 ribonucleases in messenger RNA degradation mechanisms Supervisor	Biologia Molecular e Celular (Master) Universidade de Aveiro, Portugal
2014 - 2016	Suppression therapy for nonsense mutations Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2012 - 2016	Non-canonical translation initiation of proteins with potential relevance in colorectal cancer Supervisor	Biologia (PhD) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2015 - 2015	The mechanism of nonsense-mediated mRNA decay Supervisor	Bioquímica (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2013 - 2014	The mechanism of nonsense-mediated mRNA decay Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2012 - 2014	The interplay between nonsense-mediated mRNA decay and translation Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2013 - 2013	O mecanismo de decaimento do mRNA mediado por mutações nonsense e a iniciação da tradução Supervisor	Biologia Humana e Ambiente (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2009 - 2013	Translational control by an upstream open reading frame in the human erythropoietin transcript Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2008 - 2013	Translational regulation mediated by internal ribosome entry sites of the MTOR and delta133P53 human transcripts Supervisor	Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2011 - 2012	Regulation of gene expression of human hemojuvelin by two small open reading frames and its relevance in the iron homeostasis Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2008 - 2012	Post-transcriptional control of gene expression: nonsense-mediated mRNA decay, translation and microRNAs Supervisor
2006 - 2012	Analysis of the intranuclear life of nonsense transcripts Supervisor	Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2011 - 2011	Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases Supervisor	Universidade de Évora, Portugal
2010 - 2011	Envolvimento da ribonuclease humana Dis3L1 em processos de controlo de qualidade da expressão génica Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2007 - 2011	The role of mRNA translation on nonsense-mediated decay inhibition of transcripts carrying a short open reading frame Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2009 - 2010	Gene expression control of human hemojuvelin and iron homeostasis Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2005 - 2010	Post-transcriptional regulation of HFE gene expression Co-supervisor	Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2001 - 2010	Post-transcriptional regulation of gene expression by ROD1 Supervisor	Erasmus Universiteit Rotterdam, Netherlands
2009 - 2009	Analysis of the intracnuclear life of nonsense transcripts Supervisor	Biologia (PhD) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2008 - 2009	Gene expression control by upstream open reading frames Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2003 - 2009	Study of the nonsense-mediated decay (NMD) mechanism in the human alpha-globin mRNA Supervisor	Bioquímica (PhD) Universidade de Lisboa, Portugal
2008 - 2008	Mammalian Nonsense-mediated Mrna Decay: New Determinants That Make Transcripts Bearing a Small Open Reading Resistant to Rapid Decay Supervisor	Bioquímica (PhD) Universidade de Lisboa, Portugal
2007 - 2008	Translational and post-translational control of hemojuvelin expression and its role in iron homeostasis Supervisor
2007 - 2007	Post-transcriptional Regulation of Gene Expression Supervisor	Biologia (PhD) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2004 - 2006	Regulation of the human beta-globin mRNA stability Supervisor
2005 - 2005	Study of the decay kinetics of nonsense transcripts in HeLa cells Supervisor
2005 - 2005	Human beta-Globin Nonsense-mediated mRNA Decay Supervisor	Biologia (PhD) Universidade de Lisboa, Portugal
1999 - 2004	Human beta-globin nonsense-mediated mRNA decay: a new positional effect of the nonsense codon Supervisor	Universidade de Lisboa Faculdade de Ciências, Portugal
2000 - 2003	Study of the human beta-globin nonsense-mediated mRNA decay Supervisor
2001 - 2002	Study of the human alpha-globin nonsense-mediated mRNA decay Supervisor
1999 - 2000	Pesquisa de um elemento regulador do NMD no exão 1 do gene da beta-globina humana Supervisor
1998 - 2000	Study of the human beta-globin nonsense-mediated decay by RNA in situ hybridization Supervisor
1996 - 1998	Study of the human beta-globin nonsense-mediated mRNA decay Supervisor
1996 - 1998	Study of the mechanism of the human beta-globin mRNA stability Supervisor
1992 - 1994	Hemoglobinopathies in the Portuguese Population: from molecular basis to pathophysiology Supervisor

Event organisation

	Event name Type of event (Role)	Institution / Organization
2017 - 2017	21ª Reunião Anual da Sociedade Portuguesa de Genética Humana (2017) Congress (President of the Organising Committee)
2011 - 2011	16ª Reunião Anual da Sociedade Portuguesa de Genética Humana (2011) Congress (Co-organisor)
2009 - 2009	Vth National RNA Biology Meeting (2009)
2000 - 2000	V Simpósio sobre Drepanocitose e Talassémia (2000)
1995 - 1995	XXX Jornadas Lusos-Espanholas de Genética (1995) Congress (Member of the Organising Committee)
1986 - 1986	XI IUPAC Symposium on Photochemistry (1986) Congress (Member of the Organising Committee)

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2022/03/02	Optimising mRNA integrity and read-through of CFTR bearing PTC mutations (Thesis) Arguer	Vanessa Cristina de Carvalho Luz (Master)
2018	Molecular implications of NMD-related factors in health and disease (Thesis) Arguer	Asimina Gkratsou (PhD) University of Bern Graduate School for Cellular and Biomedical Sciences, Switzerland
2018	Post-transcriptional regulation in the developing embryo (Thesis) Arguer	Sara Maria Ferreira fernandes (PhD)
2018	Characterization of mRNA dysfunctional mechanisms associated with the genetic disease Cystic Fibrosis (Thesis) Main arguer	Verónica Manuela Roxo Felício (PhD)
2017	Study and characterization of CFTR mutations in vitro and in native tissues from non-CF patients with chronic airways diseases (Thesis) Main arguer	Arsénia Joana Massinga (Master)
2017	AKT2 siRNA-nanoparticulate system as a new tool to restoration of E-cadherin and eradicate tumormetastic phenotype (Thesis) Arguer	Diana Fernandes de Sousa Rafael (PhD)
2016	Molecular and functional analysis of DAND5 in human Congenital Heart Disease (CHD) (Thesis) Main arguer	Fernando Jorge Pego Cristo (PhD) Universidade do Algarve - Campus de Gambelas, Portugal
2016	Exploring the regulatory networks of spermatogenesis: from candidate gene approaches to integrative functional genomics (Thesis) Main arguer	Ana Cristina da Cunha Figueiredo de Cardoso Lima (PhD)
2015	Perfil da expressão de miRNAs e análise de CNVs em pacientes com Perturbação do Espetro do Autismo e outras patologias do neurodesenvolvimento (Thesis) Main arguer	Ana Catarina Matos Rodrigues (Master)
2014	Recognition of premature translation termination codons in nonsense mediated mRNA decay (Thesis) Arguer	Raphael Joncourt (PhD)
2014	Fatores que contribuem para a variação dos níveis plasmáticos de bilirrubina na população portuguesa (Thesis) Main arguer	Carina de Fátima Rodrigues (PhD)
2013	Characterization of CFTR nonsense mutations using novel CFTR minigenes (Thesis) Main arguer	João Pedro Pacheco Conde de Amorim (Master)
2013	Suppressor tRNAs as therapeutic tools for cancer associated syndromes: HDGC as a model system (Thesis) Main arguer	Renata Cristina Bordeira Costa dos Santos Carriço (PhD)
2012	The role of environment stress on protein synthesis fidelity (Thesis) Main arguer	Ana Cristina Esteves Oliveira Gomes (PhD)
2011	The role of ribonuclease R in bacterial adaptation to cold shock (Thesis) Main arguer	Cátia Bárria da Silva (Master)
2010	Production of a genomic CFTR construct inserted into a human artificial chromosome (HAC) and characterization of its expression (Thesis) Main arguer	Carla Susana Rodrigues Braz (PhD)
2010	Characterization of post-transcriptional control mechanisms regulating SMN2 gene expression (Thesis) Main arguer	Ana Luísa Rodrigues Gomes (Master)
2007	Mechanisms and control of mRNA turnover in the yeast Saccharomyces cerevisiae (Thesis) Main arguer	Sílvia Daniela da Costa Teixeira (PhD)
2005	Characterization of genomic sequences of the CFTR gene and analysis of the respective transcripts (Thesis) Main arguer	Anabela Santo Ramalho Venâncio (PhD)
2005	Análise molecular dos genes de gama e de beta globina em beta talassémia na população marroquina (Thesis) Main arguer	Wafaa Lemsaddek (PhD)

Association member

	Society Organization name	Role
2002 - Current	The International RNA Society
2001 - Current	Portuguese RNA Biology Group
1996 - Current	Sociedade Portuguesa de Genética Humana

Committee member

	Activity description Role	Institution / Organization
2019 - Current	Elected member of the "Comissão Coordenadora" of the Scientific Committee of the Portuguese National Institute of Health Member
2019 - Current	Elected member of the "Grupo de trabalho para responder a solicitações no âmbito dos organismos (incluindo microrganismos) geneticamente modificados e tecnologias conexas" of National Institute of Health Dr Ricardo Jorge. Member	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2018 - Current	Elected member of the “Comissão das Políticas Públicas e Educação” of the Portuguese Society of Human Genetics Member
2014 - 2019	Nominated member of the “Comissão Paritária" of the Portuguese National Institute of Health Member
2007 - 2016	Elected member of the “Comissão Coordenadora” of the Scientific Committee of the Portuguese National Institute of Health Member

Conference scientific committee

	Conference name	Conference host
2011 - 2017	Sociedade Portuguesa de Genética Humana

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2014 - Current	BioSys-Biological Systems, Functional & Integrative Genomics PhD Programme	(Doutoramento)	Universidade de Lisboa Faculdade de Ciências, Portugal

Evaluation committee

	Activity description Role	Institution / Organization
2020/06/24 - Current	Expert project reviewer for international foundations and funding agencies Evaluator
2019 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	Swiss 3R Competence Centre (3RCC), Switzerland
2018 - Current	Expert project reviewer for international foundations and funding agencies Evaluator
2016 - Current	Expert project reviewer for international foundations and funding agencies Evaluator
2016 - Current	Expert project reviewer for national foundations and funding agencies Evaluator	Fundação para a Ciência e a Tecnologia, Portugal
2015 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	Agence nationale de la recherche, France
2015 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	Israel Science Foundation, Israel
2014 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	Grantová agentura Ceské republiky, Czech Republic
2014 - Current	Expert project reviewer for international foundations and funding agencies Evaluator
2012 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	European Science Foundation, France
2008 - Current	Expert project reviewer for international foundations and funding agencies Evaluator	The Wellcome Trust, United Kingdom
2012 - 2022	Several times opponent at PhD thesis defenses Evaluator	Universidade de Aveiro, Portugal
2007 - 2020	Several times opponent at PhD thesis defenses Evaluator	Universidade do Porto, Portugal
2007 - 2020	Several times opponent at PhD thesis defenses Evaluator	Universidade do Porto Faculdade de Farmácia, Portugal
2007 - 2020	Several times opponent at PhD thesis defenses Evaluator	Universidade do Porto Faculdade de Medicina, Portugal
2000 - 2020	Several times opponent at MSc and PhD thesis defenses Evaluator	Universidade de Lisboa Faculdade de Ciências, Portugal
2000 - 2020	Several times opponent at MSc and PhD thesis defenses Evaluator	Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2000 - 2020	Several times opponent at PhD thesis defenses	Universidade de Lisboa Faculdade de Medicina, Portugal
2000 - 2020	Several times evaluator of scientific reports from "carreira de investigação" researchers Evaluator
2010 - 2010	Opponent in a PhD thesis defense Evaluator	Erasmus Universiteit Rotterdam, Netherlands

Journal scientific committee

	Journal title (ISSN)	Publisher
2022/02/25 - Current	Frontiers in Genetics (Cancer Genetics and Oncogenetics)	Frontiers
2022/02/17 - Current	Mutation Research-Reviews in Mutation Research	Elsevier
2022/02/10 - Current	Cells	MDPI
2022/02/10 - Current	NAR Cancer	Oxford Academics
2021/03/15 - Current	Nature Communications	Nature
2020/11/13 - Current	International Journal of Molecular Sciences	MDPI
2020/11/02 - Current	American Journal of Human Genetics	Nature
2020/09/04 - Current	Biological Reviews
2020/07/17 - Current	Frontiers in Plant Science	Frontiers
2020/04/03 - Current	OBM Genetics	Lindsen
2020/01/13 - Current	Experimental Cell Research	Elsevier
2020 - Current	Experimental Cell Research (1090-2422)	Elsevier
2020 - Current	Cell Death and Disease (2041-4889)	Springer Science and Business Media LLC
2020 - Current	Cancers (2072-6694)	MDPI AG
2019 - Current	The EMBO Journal (1460-2075)	EMBO
2019 - Current	Genome Research
2018 - Current	Clinical Chemistry (1530-8561)	Oxford University Press
2016 - Current	Cellular and Molecular Life Sciences (1420-9071)	Springer-Verlag
2015 - Current	BMC Genetics (1471-2156)	Springer (Biomed Central Ltd.)
2015 - Current	Biochemical Journal (1470-8728)	Portland Press
2014 - Current	Nucleic Acids Research (1362-4962)	Oxford University Press
2012 - Current	European Journal of Human Genetics (1476-5438)	Springer Science and Business Media LLC
2012 - Current	Acta Biochimica et Biophysica Sinica (1745-7270)	Oxford University Press
2011 - Current	Cell Stress and Chaperones (1466-1268)	Springer-Verlag
2010 - Current	Human Mutation
2010 - Current	Human Genetics (1432-1203)	Springer-Verlag
2010 - Current	Mechanisms of Development (0925-4773)	Elsevier
2009 - Current	RNA Biology (1555-8584)	Landes Bioscience
2009 - Current	Molecular Genetics & Genomic Medicine (2324-9269)	Wiley (John Wiley & Sons)
2008 - Current	European Journal Of Haematology (1600-0609)	Wiley (Blackwell Publishing)
2008 - Current	British Journal of Haematology (1365-2141)	Wiley (Blackwell Publishing)
2008 - Current	RNA (1469-9001)	Cold Spring Harbor Laboratory
2006 - Current	Trends in Genetics (0168-9525)	Elsevier
2006 - Current	Journal of Hematology & Oncology Research
2005 - Current	Blood
2005 - Current	PLoS Genetics (1553-7404)	Public Library of Science
2004 - Current	FEBS Letters (1873-3468)	Wiley (John Wiley & Sons)
2004 - Current	Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
2002 - Current	PLoS ONE (1932-6203)	Public Library of Science

Distinctions

Award

2020	Travel fellowship The International RNA Society, United States
2019	Travel fellowship The International RNA Society, United States
2017	Travel fellowship The International RNA Society, United States
2016	Travel fellowship European Molecular Biology Organization, Germany
1998	Visiting researcher Fundação Calouste Gulbenkian, Portugal
1995	Short-term fellowship Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1991	PhD fellowship Fundação para a Ciência e a Tecnologia, Portugal
1990	Post-graduated fellowship Howard Hughes Medical Institute - University of Pennsylvania, United States
1990	Short-term fellowship Fundação Luso-Americana, Portugal
1986	Post-graduated fellowship Organisation mondiale de la Santé, Switzerland

Other distinction

2017	Elected President Sociedade Portuguesa de Genética Humana, Portugal
2011	Elected Secretary Sociedade Portuguesa de Genética Humana, Portugal