Personal identification

Full name

Ana Rita Ferreira Pacheco Quental

Citation names

• Quental, Rita
• Rita Quental

Author identifiers

Ciência ID

F215-708D-2019

ORCID iD

0000-0003-3856-244X

Email addresses

• rita.quental@chsj.min-saude.pt (Professional)

Knowledge fields

• Medical and Health Sciences - Clinical Medicine

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
Portuguese (Mother tongue)
English	Advanced (C1)	Proficiency (C2)	Advanced (C1)	Proficiency (C2)	Upper intermediate (B2)

	Degree	Classification
2011 - 2017/07/05 Concluded	Medicina (Mestrado) Major in Sem especialização Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal "Immunotherapy in colorectal cancer: is there a role?" (THESIS/DISSERTATION)	17 valores
2011/03/24 Concluded	Biologia (Doutoramento) Major in Sem especialidade Universidade do Porto Faculdade de Ciências, Portugal "Molecular and Evolutionary Perspectives on the Glycosylation Pathway" (THESIS/DISSERTATION)	Aprovado com distinção
2004 Concluded	Biologia (Licenciatura) Major in Científico Universidade do Porto Faculdade de Ciências, Portugal	17

Other Careers

	Category Host institution	Employer
2019/01/01 - Current	Interno (Médica)	Centro Hospitalar Universitário de São João, Portugal
	Centro Hospitalar Universitário de São João, Portugal
2018/01/01 - 2018/12/31	Interno (Médica)	Unidade Local de Saúde de Matosinhos EPE, Portugal
	Unidade Local de Saúde de Matosinhos EPE, Portugal

Contract

	Designation	Funders
2007/10/01 - 2010/09/30	ANÁLISE TRANS-ESPECÍFICA DO IMPACTO FISIOLÓGICO DE GENES INACTIVADOS PTDC/CVT/64154/2006 Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2006/02/01 - 2010/01/31	CONGENITAL DISORDERS OF GLYCOSYLATION CDG: ENZYMATIC, BIOCHEMICAL AND MOLECULAR FEATURES SFRH/BD/23657/2005 PhD Student Fellow Universidade do Porto Faculdade de Ciências, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Publications

Conference poster	Quental, Rita; Liliana Rocha; Filipa Carvalho; Miguel Leão. "História familiar de Síndrome de X-Frágil: caso raro de mosaicismo somático e importância dos métodos de diagnóstico". Paper presented in 1as Jornadas Digitais de Pediatria, 2020. "Blended phenotypes: an unusual expression of genetic heterogeneity". Paper presented in European Human Genetics Virtual Conference, 2020. Quental, Ana; Ana Grangeia; Isabel Alonso; Susana Fernandes; Miguel Leão. "Next-Generation Sequencing approach for a wide range of genetic disorders: the experience of a Portuguese Academic Hospital". Paper presented in European Human Genetics Virtual Conference, 2020. Quental, Ana; Ana Grangeia; Esmeralda Rodrigues; Isabel Alonso; Miguel Leão. "Novel NUBPL variants revealed by whole-exome sequencing in a child with ataxic gait". Paper presented in 16th International Symposium of the Portuguese Society of Metabolic Disorders, 2020. Rita Quental; Ana Grangeia; Isabel Alonso; Miguel Leão. "Novel YY1 pathogenic variant: expanding the phenotype of Gabriele-de Vries Syndrome". Paper presented in 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2019. Ana Grangeia; Quental, Rita; Sofia Dória; Helena Santos; Miguel Leão. "A novel RAD21 variant in a family with mild Cornelia de Lange syndrome phenotype". Paper presented in 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 2019. Quental, Rita; Luísa Sampaio; Miguel Leão. "Nova Variante no Gene COL4A1 Associada a uma Apresentação Clínica Incomum". Paper presented in I Fórum de Pediatria do Centro Hospitalar São João, 2019. Ana Grangeia; Rita Quental; Sofia Dória; Miguel Leão. "Steroid Sulfatase Deficiency in a contiguous gene syndrome". Paper presented in 15th International Symposium SPDM, 2019.
Journal article	Rita Rodrigues; Rita Quental; Renato Santos Silva; Lídia Costa; Sérgio Estrela-Silva. "Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants". Ophthalmic Genetics (2023): https://doi.org/10.1080/13816810.2023.2291670. 10.1080/13816810.2023.2291670 Rita Quental; Mafalda Sampaio; Isabel Alonso; Sofia Quental; Miguel Leão; Raquel Sousa. "A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature". Neuropediatrics (2023): https://doi.org/10.1055/s-0042-1760366. 10.1055/s-0042-1760366 Rita Quental; Daniel Gonçalves; Esmeralda Rodrigues; Edite Serrano Gonçalves; Jorge Oliveira; João Parente Freixo; Miguel Leão. "Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome". American Journal of Medical Genetics Part A (2022): https://doi.org/10.1002/ajmg.a.62636. 10.1002/ajmg.a.62636 Quental, Rita; Joana Pires Borges; Helena Santos; Miguel Leão. "Expanding the phenotypic spectrum of HIVEP2-related intellectual disability: description of two Portuguese patients and review of literature". Molecular Syndromology (2022): Accepted Ricardo Barreto Mota; Joana Figueirinha; Quental, Rita; Jacinta Fonseca; Cláudia Melo; Mafalda Sampaio; Raquel Sousa. "X-linked myotubular myopathy: a clinical report and a review of the mild phenotype". Revista de Neurología (2022): Accepted Lorena Stella; Joana Tenente; Quental, Rita; Helena Santos; Miguel Leão. "MYT1L duplication in a Portuguese patient with intellectual disability and obesity". International Journal of Medical Reviews and Case Reports 6 2 (2022): 50-52. Published Ganhão, Sara; Loureiro, Graça Barros; Oliveira, Diana Rita; dos-Reis-Maia, Rúben; Aguiar, Francisca; Quental, Rita; Moura, Carla; et al. "Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review". Clinical Rheumatology 39 12 (2020): 3853-3860. http://dx.doi.org/10.1007/s10067-020-05210-4. 10.1007/s10067-020-05210-4 Pereira-Castro, Isabel; Quental, Rita; da Costa, Luís T.; Amorim, António; Azevedo, Luisa. "Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals". Human Genetics 131 2 (2011): 265-274. http://dx.doi.org/10.1007/s00439-011-1075-9. 10.1007/s00439-011-1075-9 Quental, Rita; Moleirinho, Ana; Azevedo, Luísa; Amorim, António. "Evolutionary History and Functional Diversification of Phosphomannomutase Genes". Journal of Molecular Evolution 71 2 (2010): 119-127. http://dx.doi.org/10.1007/s00239-010-9368-5. 10.1007/s00239-010-9368-5 Quental, Rita; Azevedo, Luísa; Matthiesen, Rune; Amorim, António. "Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates". BMC Evolutionary Biology 10 1 (2010): 212. http://dx.doi.org/10.1186/1471-2148-10-212. 10.1186/1471-2148-10-212 Quental, R; Azevedo, L; Rubio, V; Diogo, L; Amorim, A. "Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene". Clinical Genetics 75 5 (2009): 457-464. http://dx.doi.org/10.1111/j.1399-0004.2009.01172.x. 10.1111/j.1399-0004.2009.01172.x Quelhas, D.; Quental, R.; Vilarinho, L.; Amorim, A.; Azevedo, L.. "Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations in PMM2". Annals of Human Genetics 71 3 (2006): 348-353. http://dx.doi.org/10.1111/j.1469-1809.2006.00334.x. 10.1111/j.1469-1809.2006.00334.x Azevedo, L.; Soares, P. A.; Quental, Rita; Vilarinho, L.; Teles, E. L.; Martins, E.; Diogo, L.; et al. "Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)". Annals of Human Genetics 70 6 (2006): 797-801. http://dx.doi.org/10.1111/j.1469-1809.2006.00283.x. 10.1111/j.1469-1809.2006.00283.x
Thesis / Dissertation	Ana Rita Ferreira Pacheco Quental. "Immunotherapy in colorectal cancer: is there a role?". Master, 2017. https://repositorio-aberto.up.pt/handle/10216/109083. Quental, Ana. "Molecular and Evolutionary Perspectives on the Glycosylation Pathway". PhD, Universidade do Porto Instituto de Patologia e Imunologia Molecular, 2011.