Celeste Bento
Hospitais da Universidade de Coimbra(PT)Centre for Research in Anthropology(PT)
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Erythrocyte Function and Pathophysiology, Iron Metabolism and Disorders, Myeloproliferative Neoplasms: Diagnosis and Treatment, Neonatal Health and Biochemistry
Most-Cited Works
- → Factors influencing success of clinical genome sequencing across a broad spectrum of disorders(2015)386 cited
- → Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels(2007)151 cited
- → Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference(2018)149 cited
- → Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism(2004)132 cited
- → Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases(2013)122 cited
- → Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease(2018)96 cited