Histological and mutational profile of diffuse gastric cancer: current knowledge and future challenges J Garcia‐Pelaez, R Barbosa‐Matos, I Gullo, F Carneiro, C Oliveira Molecular Oncology 15 (11), 2841-2867, 2021 | 32 | 2021 |
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour … J Garcia-Pelaez, R Barbosa-Matos, S Lobo, A Dias, L Garrido, S Castedo, ... The Lancet Oncology 24 (1), 91-106, 2023 | 20 | 2023 |
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes J Garcia-Pelaez, R Barbosa-Matos, C São José, S Sousa, I Gullo, ... European journal of medical genetics 65 (1), 104401, 2022 | 20 | 2022 |
Genetic and Epigenetic Alterations of CDH1 Regulatory Regions in Hereditary and Sporadic Gastric Cancer G Tedaldi, C Molinari, C São José, R Barbosa-Matos, A André, R Danesi, ... Pharmaceuticals 14 (5), 457, 2021 | 13 | 2021 |
The CDH1 c. 1901C> T variant: a founder variant in the Portuguese population with severe impact in mRNA splicing R Barbosa-Matos, R Leal Silva, L Garrido, AC Aguiar, J Garcia-Pelaez, ... Cancers 13 (17), 4464, 2021 | 9 | 2021 |
The European Society of Human Genetics—Young committee-activities and achievements between 2019–2022 E Avram, C Ding, JX de Miranda Cerqueira, M Johari, ARGF da Silva, ... European Journal of Human Genetics, 1-4, 2023 | 4 | 2023 |
Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum MZ Alimohamed, K Mnika, SM Adadey, R Barbosa-Matos, E Avram, ... European Journal of Human Genetics, 1-3, 2023 | | 2023 |
THE FIRST CDH1 FOUNDER VARIANT IN THE PORTUGUESE POPULATION: A MISSENSE WITH SEVERE IMPACT IN MRNA SPLICING R Barbosa-Matos, RL Silva, L Garrido, AC Aguiar, J Garcia-Pelaez, ... MEDICINE 101 (30), 2022 | | 2022 |
THE CDH1 LOCUS REGULATORY ARCHITECTURE: CDH1 NONCODING ELEMENTS CONTROL E-CADHERIN CANONICAL FUNCTIONS C Sao Jose, R Barbosa-Matos, A Andre, M Ferreira, S Lobo, H Pinheiro, ... MEDICINE 101 (30), 2022 | | 2022 |
Transriptome analysis reveals distinct responses to structural variations at theCDH1gene R Barbosa-Matos, M Ferreira, A Ferro, B Mesquita, H Pinheiro, S Valente, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 564-565, 2020 | | 2020 |
Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function R Barbosa-Matos, P Oliveira, B Mesquita, A Andre, H Pinheiro, J Carvalho, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1131-1132, 2019 | | 2019 |