António Jorge dos Santos Pereira de Sequeiros
AuthID: R-000-23K
1
TITLE: MEDICALLY ACTIONABLE SECONDARY FINDINGS FROM WHOLE EXOME SEQUENCING (WES) DATA IN A SAMPLE OF 3,972 INDIVIDUALS Full Text
AUTHORS: Melo, Mafalda; Silva, Paulo; Ribeiro, Mariana; Valente, Susana; Alves, Filipe; Coutinho, Ana; Venancio, Margarida; Sequeiros, Jorge; Freixo, Joao Parente; Antunes, Diana; Oliveira, Jorge;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Melo, Mafalda; Silva, Paulo; Ribeiro, Mariana; Valente, Susana; Alves, Filipe; Coutinho, Ana; Venancio, Margarida; Sequeiros, Jorge; Freixo, Joao Parente; Antunes, Diana; Oliveira, Jorge;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
2
TITLE: Communicating Genetic Information in Families with Inherited Late-Onset Neurodegenerative Diseases: A Scoping Review Full Text
AUTHORS: Sofia Fontoura Dias; Maria Barbosa; Filipa Júlio; Angus Clarke; Alison Metcalfe; Jorge Sequeiros; Milena Paneque; Liliana Sousa; Álvaro Mendes;
PUBLISHED: 2025, SOURCE: Health Communication
AUTHORS: Sofia Fontoura Dias; Maria Barbosa; Filipa Júlio; Angus Clarke; Alison Metcalfe; Jorge Sequeiros; Milena Paneque; Liliana Sousa; Álvaro Mendes;
PUBLISHED: 2025, SOURCE: Health Communication
3
TITLE: Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals Full Text
AUTHORS: Mafalda Melo; Mariana Ribeiro; Paulo Filipe Silva; Susana Valente; Filipe Alves; Margarida Venâncio; Jorge Sequeiros; João Parente Freixo; Diana Antunes; Jorge Oliveira;
PUBLISHED: 2025, SOURCE: International Journal of Molecular Sciences, VOLUME: 26, ISSUE: 8
AUTHORS: Mafalda Melo; Mariana Ribeiro; Paulo Filipe Silva; Susana Valente; Filipe Alves; Margarida Venâncio; Jorge Sequeiros; João Parente Freixo; Diana Antunes; Jorge Oliveira;
PUBLISHED: 2025, SOURCE: International Journal of Molecular Sciences, VOLUME: 26, ISSUE: 8
4
TITLE: Living with Transthyretin-Related Familial Amyloid Polyneuropathy-TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals Full Text
AUTHORS: Oliveira, Carla Roma ; Sousa, Liliana ; Sa Couto, Pedro; Sequeiros, Jorge; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF ADULT DEVELOPMENT, VOLUME: 31, ISSUE: 3
AUTHORS: Oliveira, Carla Roma ; Sousa, Liliana ; Sa Couto, Pedro; Sequeiros, Jorge; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF ADULT DEVELOPMENT, VOLUME: 31, ISSUE: 3
5
TITLE: Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 68
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 68
6
TITLE: Living with a question mark: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
AUTHORS: Pereira, Jose D.; Costa, Catarina; Santos, Andreia; Lemos, Marina S.; Sequeiros, Jorge; Paneque, Milena ; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
AUTHORS: Pereira, Jose D.; Costa, Catarina; Santos, Andreia; Lemos, Marina S.; Sequeiros, Jorge; Paneque, Milena ; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
7
TITLE: Perforated duodenal ulcer after Roux-en-Y gastric bypass: an unusual complication
AUTHORS: Munhoz, Ana; Paiva, Claudia; Mesquita, Isabel; Correia, Teresa; Marcos, Mario; Santos, Jorge; Soares, Paulo;
PUBLISHED: 2024, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2024, ISSUE: 3
AUTHORS: Munhoz, Ana; Paiva, Claudia; Mesquita, Isabel; Correia, Teresa; Marcos, Mario; Santos, Jorge; Soares, Paulo;
PUBLISHED: 2024, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, VOLUME: 2024, ISSUE: 3
INDEXED IN: 
Scopus 
WOS
Scopus WOS8
TITLE: THE PHENOTYPIC SPECTRA OF POLYQ EXPANSION VERSUS NON-EXPANSION FORMS IN SPINOCEREBELLAR ATAXIAS Full Text
AUTHORS: Moura, J.; Oliveira, J.; Santos, M.; Costa, S.; Silva, L.; Lemos, C.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
AUTHORS: Moura, J.; Oliveira, J.; Santos, M.; Costa, S.; Silva, L.; Lemos, C.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: WOS
WOS9
TITLE: From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal
AUTHORS: Couto, Daniela; Sequeiros, Jorge; Lima, Manuela; Sousa, Liliana; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
AUTHORS: Couto, Daniela; Sequeiros, Jorge; Lima, Manuela; Sousa, Liliana; Mendes, Alvaro;
PUBLISHED: 2024, SOURCE: JOURNAL OF COMMUNITY GENETICS
10
TITLE: CHARACTERIZATION OF MOVEMENT DISORDERS IN A COHORT OF HEREDITARY CEREBELLAR ATAXIAS Full Text
AUTHORS: Costa, S.; Oliveira, J.; Moura, J.; Lemos, C.; Santos, M.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
AUTHORS: Costa, S.; Oliveira, J.; Moura, J.; Lemos, C.; Santos, M.; Barros, José; Sequeiros, J.; Damasio, J.;
PUBLISHED: 2024, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 122
INDEXED IN: WOS
WOS