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Janet Pereira

Orcid profile

Ciência Vitae profile

Research Interests
Human genetics
Molecular biology
Prenatal diagnosis

Degree – Biology (1994) and Master – Cellular and Molecular Biology (1997), by the Faculty of Science and Technology of the University of Coimbra. Specialist in Human Genetics, by the Order of Biologists, since 2008.

Senior Health Technician – Genetics, Clinical Hematology Service, CHUC, since 1999.

Her professional experience has been dedicated to the area of Erythropathology and Iron Metabolism, which includes a routine laboratory with functional studies and a laboratory for genetic studies, being responsible for guidance and molecular diagnosis of various pathologies.

In collaboration with the Genetics Service, she implemented several studies in particular for the molecular diagnosis of Familial Amyloid Polyneuropathy, Congenital Sensorineural Deafness DFNB1, Legius Syndrome and Obesity.

Co-responsible for guiding specialization laboratory internships for interns in the specialty of Medical Genetics and also collaborates in internships for interns in the specialty of Hematology and Clinical Pathology, undergraduate, masters and doctoral students.

Oral Communications/Posters (author and co-author) – >100

Scientific articles – 24, of which 2 as 1st author

Book chapters – 1


Trainer in the Master Course in Molecular Medicine – Anemia Module of the “Continuing Medical Education Program in Molecular Medicine” – Faculty of Medicine of Porto, November 2002.

Trainer in the theoretical and practical courses “Molecular Biology in Hematology, Methodologies and clinical-laboratorial approach, April 2022 and May 2023.

Main Publications

Manco L, Pereira J, Fidalgo T, Cunha M, Pinto-Gouveia J, Padez C, Palmeira L. Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity. Eur J Med Genet. 2023 Apr;66(4):104728.

Rodrigues CD, Pombal R, Pereira J, Relvas L, Cunha E, Almeida JC, Maia T, Silva H, Bento C. Variants in the new E1′ cryptic exon of the VHL gene associated with congenital erythrocytosis-Description of three cases. EJHaem. 2022 Jul 1;3(3):989-991.

Licínio Manco, Celeste Bento, Luís Relvas, Elisabete Cunha, Janet Pereira, Valeria Moreira, Manuela Alvarez, Tabita Maia & M. Letícia Ribeiro (2020) Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers, Hemoglobin, 44:2, 113-117.

Dias HC, Cordeiro C, Pereira J, Pinto C, Real FC, Cunha E, Manco L. DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay. Forensic Sci Int. 2020 Jun;311:110267. doi: 10.1016/j.forsciint.2020.110267. Epub 2020 Apr 16.

Carmo A, Pereira-Vaz J, Mota V, Mendes A, Morais C, da Silva AC, Camilo E, Pinto CS, Cunha E, Pereira J, Coucelo M, Martinho P, Correia L, Marques G, Araújo L, Rodrigues F. Clearance and persistence of SARS-CoV-2 RNA in patients with COVID-19. J Med Virol. 2020 Oct;92(10):2227-2231.

“GENÉTICA HEMATOLÓGICA. MANUAL PRÁCTICO”. ISBN: 978-84-608-5757-0 / EAN: 9788460857570 Capítulo 33: “Anemias Diseritropoyéticas Congénitas Ano: 2016 Autora e Coordenadora

Manco L, Bento C, Victor BL, Pereira J, Relvas L, Brito RM, Seabra C, Maia TM, Ribeiro ML (2016). Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study. Blood Cells Mol Dis. 2016 Sep; 60:18-23.

Pereira J, Bento C, Manco L, Gonzalez A, Vagace J, Ribeiro ML. Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. Ann Hematol. 2016 Sep;95(9):1551-3.

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Celeste Bento and Janet Pereira co-authors as contributors to the EMQN haemoglobinopathies best practice meeting. Eur J Hum Genet. 2015 Apr;23(4):426-37.

Pereira JC, Couceiro AB, Cunha EM, Machado AI, Tamagnini GP, Martins NP, Ribeiro ML. Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience. Prenat Diagn. 2007 Jul;27(7):633-7.

Research Projects

Participated in the In2Genome project, CBRA Genomics consortium, Biocant-Genoinseq and Centro Hospitalar e Universitário de Coimbra-Serviço de Genética Médica (2018-2019).