Cathérine Boileau

Precision medicine in rare diseases: What is next?

Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors

Genetic and molecular architecture of familial hypercholesterolemia

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials

A Risk Score to Detect Subclinical Rheumatoid Arthritis–Associated Interstitial Lung Disease

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

Marfan syndrome

MUC5B promoter variant rs35705950 and rheumatoid arthritis associated interstitial lung disease survival and progression

Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort

Methotrexate and rheumatoid arthritis associated interstitial lung disease

Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial

<i>MUC5B</i> Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Regulator of telomere length 1 (<i>RTEL1</i>) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis

Plasma proprotein‐convertase‐subtilisin/kexin type 9 (PCSK9) and cardiovascular events in type 2 diabetes

<i>LOX</i> Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Brief Report: A Regulatory Variant in <i>CCR6</i> Is Associated With Susceptibility to Antitopoisomerase‐Positive Systemic Sclerosis