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Identification

Personal identification

Full name
Beatriz de Carvalho Vieira Raposo Miranda

Citation names

  • Miranda, Beatriz
  • Miranda, Beatriz Raposo

Author identifiers

Ciência ID
791B-0385-FE60

Email addresses

  • beatriz.miranda@insa.min-saude.pt (Professional)
Education
Degree Classification
2019/09 - 2022/05/30
Concluded
 Bioquímica (Mestrado)
Major in Bioquímica Médica
Universidade de Lisboa Faculdade de Ciências, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
"Molecular study of Familial Dyslipidaemias by Next Generation Sequencing" (THESIS/DISSERTATION)
 18
2016/09 - 2019/06
Concluded
 Biologia Humana (Licenciatura)
Universidade de Évora Escola de Ciências e Tecnologia, Portugal
 14
Affiliation

Science

Category
Host institution 		Employer
2022/06 - Current Researcher (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2019/11 - 2020/09 Research Trainee (Research) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Others

Category
Host institution 		Employer
2020/09 - 2022/05 Dissertação de Mestrado em Bioquímica Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2019/01 - 2019/04 Projeto de Licenciatura em Biologia Humana (Estágio) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Outputs

Publications

Conference abstract
  1. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Genetic background of individuals with clinical diagnosis of FH from the Portuguese FH Study cohort.". Paper presented in 91st European Atherosclerosis Society Congress, Mannheim, 2023.
    Published • 10.1016/j.atherosclerosis.2023.06.715
Conference poster
  1. Miranda, Beatriz; Medeiros, AM; Alves, AC; Bourbon, Mafalda. "LDLR activity and cardiovascular burden in Portuguese families with Familial Hypercholesterolemia". Paper presented in 27ª Reunião Anual da Sociedade Portuguesa de Genética Humana (CSPGH), 2023.
  2. Miranda, Beatriz; Alves, AC; Bourbon, Mafalda. "ABCG5 and ABCG8 variants associated to sitosterolemia in ClinVar – state of art". Paper presented in Curating the Clinical Genome, 2023.
  3. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Clinical and genetic characteristics of patients with a clinical diagnosis of Familial Hypercholesterolemia in Portugal". Paper presented in Congresso Português de Cardiologia, 2023.
  4. Miranda, Beatriz; Alves, AC; Bourbon, Mafalda. "Next Generation Sequencing – a Key Tool for Diagnosis and Investigation of Familial Dyslipidemias". Paper presented in 26ª Reunião Anual da Sociedade Portuguesa de Genética Humana (CSPGH), 2022.
  5. Miranda, Beatriz; Alves, AC; Bourbon, Mafalda. "Molecular study of genetic hypertriglyceridemia". Paper presented in 30º Congresso Português de Aterosclerose, 2022.
  6. Miranda, Beatriz; Alves, AC; Bourbon, Mafalda. "Molecular diagnosis of genetic dyslipidaemias by Next Generation Sequencing". Paper presented in 40º Congresso da Sociedade Europeia de Aterosclerose (EAS), Milão, Itália, 2022.
Journal article
  1. Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda. "Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype". Journal of Lipid Research 65 2 (2024): 100490. http://dx.doi.org/10.1016/j.jlr.2023.100490.
    Published • 10.1016/j.jlr.2023.100490
  2. Alves, Ana Catarina; Miranda, Beatriz; Moldovan, Oana; Santo, Raquel Espírito; Gouveia Silva, Raquel; Soares Cardoso, Sandra; Diogo, Luísa; et al. "Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal". Frontiers in Genetics 13 (2023): http://dx.doi.org/10.3389/fgene.2022.1088040.
    10.3389/fgene.2022.1088040
Newsletter article
  1. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar (1999-2021): relação fenótipo-genótipo", Boletim Epidemiológico Observações , 2023
Thesis / Dissertation
  1. "Molecular study of Familial Dyslipidaemias by Next Generation Sequencing". Master, Universidade de Lisboa Faculdade de Ciências, 2022. http://hdl.handle.net/10451/53702.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/10/28 Cascade screening in Familial Hypercholesterolemia: adult cascade screening versus child reverse cascade screening Congresso Português de Aterosclerose (CPA)
Sociedade Portugesa de Aterosclerose (Peniche, Portugal)
2023/05/23 Adult cascade screening versus child reverse cascade screening in Familial Hypercholesterolemia 91º Congresso da Sociedade Europeia de Aterosclerose (EAS)
Sociedade Europeia de Aterosclerose (EAS) (Mennheim, Germany)
2021/11/30 Molecular diagnosis of monogenic familial dyslipidaemia 5ª Conferência Anual da RedeSAÚDE
Universidade de Lisboa (Reitoria) (Lisboa, Portugal)
2021/10/06 Molecular Study of Familial Dyslipidemias by Next Generation Sequencing (iNNOVATE Competition (comunicação oral e poster) 13º Conferência iMed
Faculdade de Ciências Médicas da Universidade Nova de Lisboa (Lisboa, Portugal)

Association member

Society Organization name Role
2022 - Current Membro do grupo de trabalho (Senior Variant Biocurator) do Familial Hypercholesterolemia Variant Curation Expert Panel (FH VCEP) do Clinical Genome Resource (ClinGen) Membro do grupo de trabalho (Senior Variant Biocurator)