Mafalda Bourbon
Researcher Next ID · RN-040983
Researcher · Biochemistry, Genetics and Molecular Biology
Lisbon, Portugal
- Works count
- 443
- Citation count
- 4,630
- H-index
- 35
- i10-index
- 69
Research interests
Publications
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
The Lancet · 2021 · https://doi.org/10.1016/s0140-6736(21)01122-3
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Genetics in Medicine · 2021 · https://doi.org/10.1016/j.gim.2021.09.012
Clinical Genetic Testing for Familial Hypercholesterolemia
Journal of the American College of Cardiology · 2018 · https://doi.org/10.1016/j.jacc.2018.05.044
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Atherosclerosis · 2018 · https://doi.org/10.1016/j.atherosclerosis.2018.08.051
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
Genetics in Medicine · 2017 · 10.1038/gim.2017.151
Familial hypercholesterolaemia: A global call to arms
Atherosclerosis · 2015 · https://doi.org/10.1016/j.atherosclerosis.2015.09.021
Current projects
No projects listed.