Raquel dos Santos

PhD student

Research Group
Phone number
+351 212 949 624 (ext: 10984)
Researcher ID

Main publications

  • Tavares, I; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP; Lobato, L. 2019. Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 26, DOI: 10.1080/13506129.2019.1582500
  • Pereira, R; Oliveira, J; Barbosa, T; Oliveira, M; Santos, R; Santos, T; Goncalves, P; Ferraz, L; Barros, A; Sousa, M. 2019. Novel homozygous pathogenic variants in CCDC103 identified in patients with situs-inversus-totalis and absence of axoneme dynein arms: further insights on reproductive function. HUMAN REPRODUCTION, 34, DOI:
  • Oliveira, J; Goncalves, A; Ariyurek, Y; den Dunnen, JT; Sousa, M; Santos, R. 2019. Whole-genome sequencing detects a large genomic inversion disrupting the DMD gene in a Becker muscular dystrophy patient. EUROPEAN JOURNAL OF HUMAN GENETICS, 27, DOI:
  • Pereira, R; Oliveira, ME; Santos, R; Oliveira, E; Barbosa, T; Santos, T; Goncalves, P; Ferraz, L; Pinto, S; Barros, A; Oliveira, J; Sousa, M. 2019. Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 36, DOI: 10.1007/s10815-019-01509-7
  • Jorge, P; Garcia, E; Goncalves, A; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J; Soares, G; Correia, C; Reis-Lima, M; Cirigliano, V; Santos, R. 2018. Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. BMC Medical Genetics, 19, DOI: 10.1186/s12881-018-0589-6


  • PhD in Biotechnology, UCIBIO
  • Bachelor in Biology, Instituto Superior de Agronomia (2010)
  • MSc in Biotechnology, Instituto Superior Técnico (2013)