Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
11
TITLE: High-Throughput Microscopy Characterization of Rare LDLR Variants
AUTHORS: Graca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: JACC-BASIC TO TRANSLATIONAL SCIENCE, VOLUME: 8, ISSUE: 8
AUTHORS: Graca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: JACC-BASIC TO TRANSLATIONAL SCIENCE, VOLUME: 8, ISSUE: 8
INDEXED IN: 
WOS
WOS12
TITLE: Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults Full Text
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2023, SOURCE: ATHEROSCLEROSIS, VOLUME: 383
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2023, SOURCE: ATHEROSCLEROSIS, VOLUME: 383
INDEXED IN: 
Scopus WOS
Scopus WOS13
TITLE: Competition for Funding or Funding for Competition? Analysing the Dissemination of Performance-based Funding in European Higher Education and its Institutional Effects Full Text
AUTHORS: Teixeira, P ; Ricardo Biscaia ; Rocha, V;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF PUBLIC ADMINISTRATION, VOLUME: 45, ISSUE: 2
AUTHORS: Teixeira, P ; Ricardo Biscaia ; Rocha, V;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF PUBLIC ADMINISTRATION, VOLUME: 45, ISSUE: 2
14
TITLE: Functional characterization of variants in the 5UTR and promoter of PCK9 gene
AUTHORS: Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romao, Luisa; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romao, Luisa; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS15
TITLE: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
INDEXED IN: WOS
WOS16
TITLE: Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemia Full Text
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
INDEXED IN: Scopus WOS
Scopus WOS17
TITLE: Editorial
AUTHORS: Júlio, E; Pimentel, M;
PUBLISHED: 2022, SOURCE: Structural Concrete, VOLUME: 23, ISSUE: 3
AUTHORS: Júlio, E; Pimentel, M;
PUBLISHED: 2022, SOURCE: Structural Concrete, VOLUME: 23, ISSUE: 3
INDEXED IN: Scopus
Scopus18
TITLE: CLINVAR LDLR VARIANT CLASSIFICATION VS FH VCEP LDLR SPECIFICATIONS Full Text
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS19
TITLE: FAMILIAL HYPERCHOLESTEROLEMIA - MONOGENIC, POLYGENIC OR BOTH? Full Text
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS20
TITLE: RARE DYSLIPIDAEMIAS ASSOCIATED WITH HDL CHOLESTEROL VALUES Full Text
AUTHORS: dos Santos Alves, Ana Catarina; Miranda, Beatriz; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: dos Santos Alves, Ana Catarina; Miranda, Beatriz; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS