J. Rabès

发表论文 91 篇 · 总被引 6894 次 · h-index 32

代表论文

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). (2021 · The Lancet · 被引 230)
APOE gene variants in primary dyslipidemia. (2021 · Atherosclerosis · 被引 138)
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease (2021 · Clinical Genetics · 被引 76)
SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia. (2020 · Atherosclerosis · 被引 44)
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia (2018 · Scientific Reports · 被引 34)
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? (2018 · European Journal of Human Genetics · 被引 24)