Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-dominant
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
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Peloso GM et al.
Circulation. Genomic and Precision Medicine, 2019
30939045 (PubMed )
Supplement: hcg-12-e002376-s001.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
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
Freudenberg-Hua Y et al.
Human Molecular Genetics, 2016
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