Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
31
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
32
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
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
33
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
Scopus34
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
WOS35
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
WOS36
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
WOS37
TITLE: MOLECULAR STUDY OF MODY: PRELIMINARY RESULTS FROM A SIX YEARS PROJECT Full Text
AUTHORS: Crasto Vaz, Margarida da Fonte; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, Joao Sequeira; Sampaio, Maria de Lurdes; Dario, Paulo; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Crasto Vaz, Margarida da Fonte; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, Joao Sequeira; Sampaio, Maria de Lurdes; Dario, Paulo; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS38
TITLE: Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
AUTHORS: Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano Bertolini; Mariko Harada-Shiba; Dirk J Blom; Frederick J Raal; Marina Cuchel; Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano A Bertolini; ...More
PUBLISHED: 2022, SOURCE: The Lancet, VOLUME: 399, ISSUE: 10326
AUTHORS: Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano Bertolini; Mariko Harada-Shiba; Dirk J Blom; Frederick J Raal; Marina Cuchel; Tycho R Tromp; Merel L Hartgers; Kees K Hovingh; Antonio J Vallejo-Vaz; Kausik K Ray; Handrean Soran; Tomas Freiberger; Stefano A Bertolini; ...More
PUBLISHED: 2022, SOURCE: The Lancet, VOLUME: 399, ISSUE: 10326
39
TITLE: Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia
AUTHORS: Correia, M; Kagenaar, E; van Schalkwijk, DB; Bourbon, M; Gama Carvalho, M ;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Correia, M; Kagenaar, E; van Schalkwijk, DB; Bourbon, M; Gama Carvalho, M ;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
40
TITLE: Pharmacogenomics of statins and familial hypercholesterolemia
AUTHORS: Chora, JR; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 2
AUTHORS: Chora, JR; Bourbon, M;
PUBLISHED: 2021, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 32, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS