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Rita Barbosa‐Matos
Observed name:
Rita Barbosa-Matos
Institution:
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
Observed institutions:
Universidade do Porto,
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto,
Instituto de Ciências Biomédicas Albel Salazar
ORCID:
0000-0003-0794-4912
Observed ORCID:
0000-0003-0794-4912
OpenAlex ID:
A5055338598
Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges
2021
·
José Garcia‐Pelaez
, Rita Barbosa‐Matos
, et al.
·
Molecular Oncology
·
45
PDF
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
2022
·
José Garcia-Pelaez
, Rita Barbosa-Matos
, et al.
·
The Lancet Oncology
·
41
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
2021
·
José Garcia-Pelaez
, Rita Barbosa-Matos
, et al.
·
European Journal of Medical Genetics
·
28
Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer
2021
·
Gianluca Tedaldi
, Chiara Molinari
, et al.
·
Pharmaceuticals
·
21
PDF
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
2021
·
Rita Barbosa-Matos
, Rafaela Leal Silva
, et al.
·
Cancers
·
9
PDF
An interconnected data infrastructure to support large-scale rare disease research
2024
·
Lennart F Johansson
, Steve Laurie
, et al.
·
GigaScience
·
8
PDF
The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022
2023
·
Elena Avram
, Can Ding
, et al.
·
European Journal of Human Genetics
·
8
PDF
TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype
2025
·
Alexander Sun Zhang
, Meis Omran
, et al.
·
Scientific Reports
·
6
PDF
A protocol for karyotyping and genetic editing of induced pluripotent stem cells with homology-directed repair mediated CRISPR/Cas9
2025
·
Silvana Lobo
, Rita Barbosa-Matos
, et al.
·
Biology Methods and Protocols
·
5
Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework
2026
·
Sara B. Pereira
, Liliana Sousa
, et al.
·
European Journal of Human Genetics
·
2
PDF
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum
2023
·
Mohamed Zahir Alimohamed
, Khuthala Mnika
, et al.
·
European Journal of Human Genetics
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Works count:
12
Citation count:
181
H-index:
8
I10-index:
4
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