1
TITLE: TUMOURS WITH CDH1 GENOMIC LOSS ASSOCIATE WITH BEST OUTCOME IN MICE AND MEN  Full Text
AUTHORS: Martins, Nelson; Barbosa Matos, Rita; Jose, Celina Sao; Dias, Alexandre; Gullo, Irene; Lobo, Silvana; Moreira, Francisco; Amaral, Ana Luisa; Santos, Mafalda; Ferreira, Marta; Eason, Kate; Manzano Garcia, Raquel; Rueda, Oscar M.; Chin, Suet Feung; Oliveira, Carla;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
2
TITLE: Novel Insights Into Lifetime Risk In HDGC: Lower Cancer Risk For The Most Recurrent <i>CDH1</i> Variant In Europe
AUTHORS: Barbosa Matos, Rita; Fonseca, Joao; Garrido, Luzia; Seixas, Susana; Freixo, Joao Parente; Oliveira, Renata; Hueneburg, Robert; Benusiglio, Patrick; Dahan, Karin; Feret, Damien; Spier, Isabel; Aretz, Stefan; Desseignes, Camille; Quental, Ana Rita Ferreira Pacheco; Fernandes, Susana; Costa, Susy Cabral; Vilarinho, Lucia; Castedo, Sergio; Grangeia, Ana; Vasconcelos, Alice Porto Guerra; Rocha, Diogo; Louro, Pedro; Batista, Manuela; Carneiro, Fatima; Gullo, Irene; Drouet, Youenn; Oliveira, Carla; ...More
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
3
TITLE: The need for young geneticist societies - a survey by the European Society of Human Genetics - Young Committee (ESHG-Y)
AUTHORS: Silva, Raquel Gouveia; Barbosa Matos, Rita; Johari, Mridul; Dore, Rhys; Cerqueira, Juliana Miranda; Kalantari, Silvia; Sabau, Ileana Delia; Mroczek, Magdalena;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
4
TITLE: The need for young geneticist societies - a survey by the European Society of Human Genetics - Young Committee (ESHG-Y)
AUTHORS: Silva, Raquel Gouveia; Barbosa Matos, Rita; Johari, Mridul; Dore, Rhys; Cerqueira, Juliana Miranda; Kalantari, Silvia; Sabau, Ileana Delia; Mroczek, Magdalena;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
5
TITLE: 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  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 23
6
TITLE: WHOLE-GENOME SEQUENCING ANALYSIS TO IDENTIFY CANDIDATE HDGC GENETIC MODIFIERS FOR THE CDH1 C.1901 VARIANT  Full Text
AUTHORS: Fonseca, Joao; Barbosa Matos, Rita; Ferreira, Marta; Ferreira, Daniel A. G.; Garrido, Luzia; Seixas, Susana; Xavier, Joana M. ; Maia, Ana Teresa ; Oliveira, Carla;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
7
TITLE: Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum  Full Text
AUTHORS: Alimohamed, Mohamed Zahir; Mnika, Khuthala; Adadey, Samuel Mawuli; Barbosa Matos, Rita; Avram, Elena; Nevondwe, Patracia; Akurugu, Wisdom A.; Mupfururirwa, Wilson; Cerqueira, Juliana Xavier de Miranda; Dore, Rhys; Sabau, Ileana Delia; Kalantari, Silvia; da Silva, Ana Raquel Gouveia Freitas; Anzaku, Abbas Abel; Matimba, Alice; Chauke, Paballo Abel; Johari, Mridul; Nembaware, Victoria; Mroczek, Magdalena;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS
8
TITLE: THE FIRST CDH1 FOUNDER VARIANT IN THE PORTUGUESE POPULATION: A MISSENSE WITH SEVERE IMPACT IN MRNA SPLICING  Full Text
AUTHORS: Barbosa Matos, Rita; Silva, Rafaela Leal; Garrido, Luzia; Aguiar, Ana Cerqueira; Garcia Pelaez, Jose; Andre, Ana; Seixas, Susana; Sousa, Sonia Passos; Ferro, Luisa; Vilarinho, Lucia; Gullo, Irene; Devezas, Vitor; Oliveira, Renata; Fernandes, Susana; Costa, Susy Cabral ; Magalhaes, Andre; Baptista, Manuela; Carneiro, Fatima; Pinheiro, Hugo; Castedo, Sergio; Oliveira, Carla; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS