Personal identification

Full name

Janet Pereira

Citation names

• Pereira, Janet

Author identifiers

Ciência ID

0210-41D0-EC6A

ORCID iD

0000-0003-3046-3420

Telephones

Mobile phone

• 962480512 (Personal)

Addresses

• Unidade Funcional de Hematologia Molecular - Serviço de Hematologia Clínica Laboratório Central - Piso 1 Hospital Pediátrico de Coimbra Av. Afonso Romão, Stº Antº dos Olivais, 3000-602, Coimbra, Coimbra, Portugal (Professional)

Knowledge fields

• Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
English	Advanced (C1)		Advanced (C1)	Advanced (C1)	Advanced (C1)

	Degree	Classification
2008/11/09 Concluded	Genética Humana (Título de especialista) Major in Genética Humana Ordem dos Biólogos, Portugal
1997/12/16 Concluded	Biologia Celular (Mestrado) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal "Estudo Molecular dos Polimorfismos do Sistema Rh" (THESIS/DISSERTATION)	Muito Bom
1997/07/31 Concluded	Técnico Superior de Saúde - Ramo de Genética (Outros) Major in Genética Ministério da Saúde, Portugal
1994/09/23 Concluded	Biologia (Licenciatura) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal

Other Careers

	Category Host institution	Employer
1999/10/13 - Current	Assistente (Técnico Superior de Saúde)	Centro Hospitalar e Universitário de Coimbra EPE, Portugal
	Centro Hospitalar e Universitário de Coimbra EPE, Portugal

Publications

Book chapter

Pereira, Janet. "Anemias Diseritropoyéticas Congénitas". In Genética Hematológica. Manual Práctico.. Spain: Lapisoft Projects SL, 2016. Published

Journal article

Manco, Licínio; Pereira, Janet; Fidalgo, Teresa; Cunha, Marina; Pinto-Gouveia, José; Padez, Cristina; Palmeira, Lara. Corresponding author: Manco, Licínio. "Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity". European Journal of Medical Genetics 66 4 (2023): 104728. http://dx.doi.org/10.1016/j.ejmg.2023.104728. Open access • Published • 10.1016/j.ejmg.2023.104728 Rodrigues, Catarina Dantas; Pombal, Rita; Pereira, Janet; Relvas, Luís; Cunha, Elizabete; Almeida, José Carlos; Maia, Tabita; Silva, Helena; Bento, Celeste. Corresponding author: Rodrigues, Catarina Dantas. "Variants in the new E1' cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases". eJHaem 3 3 (2022): 989-991. http://dx.doi.org/10.1002/jha2.490. Open access • Published • 10.1002/jha2.490 Carmo, Anália; Pereira-Vaz, João; Mota, Vanda; Mendes, Alexandra; Morais, Célia; Silva, Andreia Coelho; Camilo, Elisabete; et al. "Clearance and persistence of SARS-CoV-2 RNA in patients with COVID-19". Journal of Medical Virology 92 10 (2020): 2227-2231. http://dx.doi.org/10.1002/jmv.26103. 10.1002/jmv.26103 Dias, Helena Correia; Cordeiro, Cristina; Pereira, Janet; Pinto, Catarina; Real, Francisco Corte; Cunha, Eugénia; Manco, Licínio. "DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay". Forensic Science International 311 (2020): 110267. http://dx.doi.org/10.1016/j.forsciint.2020.110267. 10.1016/j.forsciint.2020.110267 Pereira, Janet. "Multi-Locus Models to Address Hb F Variability in Portuguese ß-Thalassemia Carriers". Hemoglobin 44 2 (2020): 113-117. https://www.tandfonline.com/doi/full/10.1080/03630269.2020.1753766. Published Manco, Licínio; Bento, Celeste; Victor, Bruno L.; Pereira, Janet; Relvas, Luís; Brito, Rui M.; Seabra, Carlos; Maia, Tabita M.; Ribeiro, M. Letícia. "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, Molecules, and Diseases 60 (2016): 18-23. http://dx.doi.org/10.1016/j.bcmd.2016.06.002. 10.1016/j.bcmd.2016.06.002 Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria Letícia. "Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency". (2016): http://hdl.handle.net/10316/45869. Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; et al. "EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies". European Journal of Human Genetics 23 4 (2014): 426-437. http://dx.doi.org/10.1038/ejhg.2014.131. 10.1038/ejhg.2014.131 Pereira, Janet. "Novel human pathological mutations. Gene symbol: RHD. Disease: Rhesus negative blood group". Human Genetics 126 2 (2009): 332-332. https://pubmed.ncbi.nlm.nih.gov/19693998/. Published Pereira, Janet. "Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia". Human Genetics 126 2 (2009): 333-333. https://pubmed.ncbi.nlm.nih.gov/19693999/. Pereira, Janet. "Novel human pathological mutations. Gene symbol: RHD. Disease: reduced expression (weak D)". Human Genetics 125 3 (2009): 341-341. https://pubmed.ncbi.nlm.nih.gov/19320009/. Published Pereira, Janet. "Gene symbol: RHD. Disease: Rhesus negative blood group". Human Genetics 123 1 (2008): 107-107. https://pubmed.ncbi.nlm.nih.gov/18386336/. Pereira, Janet. "Human gene mutations. Gene symbol: RPS19 - Disease: Diamond-Blackfan anaemia". Human Genetics 122 2 (2007): 213-213. https://pubmed.ncbi.nlm.nih.gov/18386370/. Pereira, Janet. "Human gene mutations. Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia". Human Genetics 122 2 (2007): 213-213. https://pubmed.ncbi.nlm.nih.gov/18386371/. Published Pereira, Janet Carvalho; Couceiro, Ana Bela; Cunha, Elizabete Maria; Machado, Ana Isabel; Tamagnini, Gabriel Pinto; Martins, Natália Prata; Ribeiro, Maria Letícia. "Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience". Prenatal Diagnosis 27 7 (2007): 633-637. http://dx.doi.org/10.1002/pd.1760. Published • 10.1002/pd.1760 Manco, Licínio; Relvas, Luís; Pinto, C. Silva; Pereira, Janet; Almeida, A. Bessa; Ribeiro, M. Letícia. "Molecular characterization of five Portuguese patients with pyrimidine 5’-nucleotidase deficient hemolytic anemia showing three new P5’N-I mutations". (2006): http://hdl.handle.net/10316/13583. Pereira, Janet. "Gene symbol: NT5C3. Disease: haemolytic anemia". Human Genetics 118 3-4 (2005): 534-534. https://pubmed.ncbi.nlm.nih.gov/16402212/. Published Pereira, Janet. "Gene symbol: ALAS2. Disease: sideroblastic anaemia". Human Genetics 115 6 (2004): 531-531. https://pubmed.ncbi.nlm.nih.gov/15565468/. Published Pereira, Janet. "Onset of X-linked sideroblastic anemia in the fourth decade". Haematologica 89 10 (2004): 1261-1263. https://haematologica.org/article/view/3259. Published Pereira, Janet. "Gene symbol: ALAS2. Disease: sideroblastic anaemia". Human Genetics 115 6 (2004): 533-533. https://pubmed.ncbi.nlm.nih.gov/15678586/. Published Pereira, Janet. "Gene symbol: ALAS2. Disease: sideroblastic anaemia". 115 6 (2004): 533-533. https://pubmed.ncbi.nlm.nih.gov/15678587/. Published Pereira, Janet. "Gene symbol: RPS19. Disease: Diamond-Blackfan anaemia". Human Genetics 115 6 (2004): 534-534. https://pubmed.ncbi.nlm.nih.gov/15678589/. Published Pereira, Janet. "Gene symbol: ALAS2. Disease: sideroblastic anaemia". Human Genetics 115 6 (2004): 532-532. https://pubmed.ncbi.nlm.nih.gov/15678585/. Published Ribeiro, M. L.; Gonplves, P.; Cunha, E.; Bentol, C.; Almeida, H.; Pereira, J.; Núñez, G. Martin; Tamagnini, G. P.. "Genetic Heterogeneity of ß-Thalassemia in Populations of the Iberian Peninsula". Hemoglobin 21 3 (1997): 261-269. http://dx.doi.org/10.3109/03630269708997387. Published • 10.3109/03630269708997387