Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene

Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease

(2020) Pengwei Hu et al.   CIRCULATION

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia

(2020) Hayato Tada et al.   Journal of Clinical Lipidology

Worldwide Prevalence of Familial Hypercholesterolemia

(2020) Sabina O. Beheshti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

(2020) Kiran Musunuru et al.   Circulation-Genomic and Precision Medicine

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients

(2019) Mika Hori et al.   ATHEROSCLEROSIS

20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia

(2019) Ilse K. Luirink et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999–2014)

(2018) Emily M. Bucholz et al.   CIRCULATION

Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017

(2018) Mariko Harada-Shiba et al.   Journal of Atherosclerosis and Thrombosis

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

(2018) Antonio J. Vallejo-Vaz et al.   ATHEROSCLEROSIS

Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease

(2018) Hayato Tada et al.   Journal of Clinical Lipidology

Clinical Genetic Testing for Familial Hypercholesterolemia

(2018) Amy C. Sturm et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia

(2017) Hayato Tada et al.   EUROPEAN HEART JOURNAL

Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan

(2017) Hiroshi Mabuchi   Journal of Atherosclerosis and Thrombosis

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene

(2015) Hayato Tada et al.   ATHEROSCLEROSIS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Impact of Statin Treatment on the Clinical Fate of Heterozygous Familial Hypercholesterolemia

(2011) Mariko Harada-Shiba et al.   Journal of Atherosclerosis and Thrombosis