BTR – Biomedical and Translational Research

Astrid Vicente

Recent Publications
Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants
Graça R, Alves AC, Zimon M, Pepperkok R, Bourbon M (2022) Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants. Journal of Clinical Lipidology, 16(4), 516-524. doi: 10.1016/j.jacl.2022.04.005
Biomedical knowledge graph embeddings for personalized medicine: Predicting disease-gene associations
Vilela J, Asif M, Marques AR, Santos JX, Rasga C, Vicente A, Martiniano H (2022) Biomedical knowledge graph embeddings for personalized medicine: Predicting disease-gene associations. Expert Systems, , e13181. doi: 10.1111/exsy.13181
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder
Marques AR, Santos JX, Martiniano H, Vilela J, Rasga C, Romão L, Vicente AM (2022) Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder. Biomedicines, 10(3), 665. doi: 10.3390/biomedicines10030665
Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes
Graça, Rafael, Rafael Fernandes, Ana C. Alves, Juliane Menezes, Luísa Romão, and Mafalda Bourbon. (2021) Biomedicines 9, no. 9: 1219. https://doi.org/10.3390/biomedicines9091219
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)
Rosa J, Gaspar-Silva P, Pacheco P, Silva C, Branco CC, Vieira BS, Carreiro A Gonçalves J Mota-Vieira L (2020) BMC Pediatrics 20(1); https://doi.org/10.1186/s12887-019-1903-y
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
Mariano C, Alves AC, Medeiros AM, Chora JR, Antunes M, Futema M, Humphries SE, Bourbon M (2020) Clin Genet. 97(3):457-466; https://doi.org/10.1111/cge.13697