José Luís Silva Borges Costa
AuthID: R-000-8F5
41
TITLE: Multi Institutional Evaluation of a High Sensitive NGS Assay for Liquid Biopsy Mutation Detection in Lung Cancer
AUTHORS: Vollbrecht, C; Costa, JL; Weren, R; Rachiglio, AM; Mafficini, A; Kurth, H; Reiman, A; Didelot, A; Boag, A; Nishino, K; Feilotter, HE; Laurent Puig, P; Sheils, O; Scarpa, A; Ligtenberg, M; Cree, IA; Machado, JC; Normanno, N; Hummel, M;
PUBLISHED: 2017, SOURCE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 19, ISSUE: 2
AUTHORS: Vollbrecht, C; Costa, JL; Weren, R; Rachiglio, AM; Mafficini, A; Kurth, H; Reiman, A; Didelot, A; Boag, A; Nishino, K; Feilotter, HE; Laurent Puig, P; Sheils, O; Scarpa, A; Ligtenberg, M; Cree, IA; Machado, JC; Normanno, N; Hummel, M;
PUBLISHED: 2017, SOURCE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 19, ISSUE: 2
INDEXED IN: 
WOS
WOS42
TITLE: New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
AUTHORS: Jorge Oliveira; Ana Goncalves; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6
AUTHORS: Jorge Oliveira; Ana Goncalves; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6
43
TITLE: Detection of somaticmutations in plasma allows for non-invasive real time therapy response monitoring of lung cancer patients Full Text
AUTHORS: Costa, JL; Fernandes, G; Reis, J; Hespanhol, V; Machado, JC;
PUBLISHED: 2016, SOURCE: VIRCHOWS ARCHIV, VOLUME: 469
AUTHORS: Costa, JL; Fernandes, G; Reis, J; Hespanhol, V; Machado, JC;
PUBLISHED: 2016, SOURCE: VIRCHOWS ARCHIV, VOLUME: 469
INDEXED IN: WOS
WOS44
TITLE: Colorectal primary tumors and metastases are highly homogeneous regarding driver mutations
AUTHORS: Silva, M; Resende, C; Barranha, R ; Meireles, S; Carneiro, F ; Costa, JL; Machado, JC;
PUBLISHED: 2016, SOURCE: CANCER RESEARCH, VOLUME: 76, ISSUE: 14 Supplement
AUTHORS: Silva, M; Resende, C; Barranha, R ; Meireles, S; Carneiro, F ; Costa, JL; Machado, JC;
PUBLISHED: 2016, SOURCE: CANCER RESEARCH, VOLUME: 76, ISSUE: 14 Supplement
INDEXED IN: WOS 
CrossRef
WOS CrossRef45
TITLE: Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Full Text
AUTHORS: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
AUTHORS: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
46
TITLE: Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes Full Text
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
47
TITLE: Genetic heterogeneity in colorectal cancer and its clinical implications [Heterogeneidade genética no cancro colorrectal e as suas implicações clínicas]
AUTHORS: Barranha, R; Costa, JL; Carneiro, F ; Machado, JC ;
PUBLISHED: 2015, SOURCE: Acta Medica Portuguesa, VOLUME: 28, ISSUE: 3
AUTHORS: Barranha, R; Costa, JL; Carneiro, F ; Machado, JC ;
PUBLISHED: 2015, SOURCE: Acta Medica Portuguesa, VOLUME: 28, ISSUE: 3
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID48
TITLE: Comprehensive genetic profiling of chromosomal translocations in lung cancer tumors: development and validation of a next-generation sequencing panel in an international multicenter study
AUTHORS: Pierre Laurent Puigi; Jose Louis Costa; Orla Sheils; Bastiaan Tops; Andrea Mafficini; Delphine Le Corre; Henriette Kurth; Anna Maria Rachiglio; Helene Blons; Eliana Amato; Christoph Noppen; Renato Franco; Anne Reiman; Roy Bastien; Noah Welker; Jose Carlos Machado ; Ian Cree; Harriet Feilotter; Marjolijn Ligtenberg; Aldo Scarpa; ...More
PUBLISHED: 2015, SOURCE: 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR) in CANCER RESEARCH, VOLUME: 75, ISSUE: 15 Supplement
AUTHORS: Pierre Laurent Puigi; Jose Louis Costa; Orla Sheils; Bastiaan Tops; Andrea Mafficini; Delphine Le Corre; Henriette Kurth; Anna Maria Rachiglio; Helene Blons; Eliana Amato; Christoph Noppen; Renato Franco; Anne Reiman; Roy Bastien; Noah Welker; Jose Carlos Machado ; Ian Cree; Harriet Feilotter; Marjolijn Ligtenberg; Aldo Scarpa; ...More
PUBLISHED: 2015, SOURCE: 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR) in CANCER RESEARCH, VOLUME: 75, ISSUE: 15 Supplement
INDEXED IN: WOS CrossRef
WOS CrossRef49
TITLE: DIFFERENCES IN GASTRIC MICROBIOTA IN GASTRITIS AND GASTRIC CANCER Full Text
AUTHORS: Ferreira, RM; Costa, JL; Machado, JC ; Figueiredo, C ;
PUBLISHED: 2014, SOURCE: European-Helicobacter-Study-Group 27th International Workshop on Helicobacter and Microbiota in Chronic Digestive Inflammation and Gastric Cancer in HELICOBACTER, VOLUME: 19
AUTHORS: Ferreira, RM; Costa, JL; Machado, JC ; Figueiredo, C ;
PUBLISHED: 2014, SOURCE: European-Helicobacter-Study-Group 27th International Workshop on Helicobacter and Microbiota in Chronic Digestive Inflammation and Gastric Cancer in HELICOBACTER, VOLUME: 19
INDEXED IN: WOS
WOS50
TITLE: Development and Verification of a Noonan Genes Ion AmpliSeq Panel
AUTHORS: Neveling, K; Costa, JL; Yntema, H; Pantaleoni, F; Machado, JC ; Nelen, M; Tartaglia, M;
PUBLISHED: 2014, SOURCE: Annual Meeting of the Association-for-Molecular-Pathology (AMP) in JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 16, ISSUE: 6
AUTHORS: Neveling, K; Costa, JL; Yntema, H; Pantaleoni, F; Machado, JC ; Nelen, M; Tartaglia, M;
PUBLISHED: 2014, SOURCE: Annual Meeting of the Association-for-Molecular-Pathology (AMP) in JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 16, ISSUE: 6
INDEXED IN: WOS
WOS