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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: 9
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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
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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
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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