Associated Papers
Opportunistic Genomic Screening for Familial Hypercholesterolemia to Improve Low-Density Lipoprotein Cholesterol: A Randomized Clinical Trial.
Vassy JL et al.
Jama Network Open, 2026
Pathological features of non-alcoholic steatohepatitis in a pediatric patient with heterozygous familial hypobetalipoproteinemia: A case report.
Miyamoto K et al.
World Journal of Hepatology, 2025
Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.
Wakabayashi T et al.
Journal of Atherosclerosis and Thrombosis, 2024
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Dron JS et al.
Jama Cardiology, 2023
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi M et al.
Biomolecules, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-3.xlsx › Sheet1
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O et al.
Clinical Genetics, 2018
Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.
Kalaora S et al.
Oncotarget, 2016
26819371 (PubMed )
Supplement: oncotarget-07-5110-s002.xlsx › Genome_sequencing
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
Leren TP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Di Costanzo A et al.
Journal of Clinical Lipidology, 0
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