Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
41683911 (PubMed )
Supplement: ijms-27-01491-s001.zip › ijms-4086442-supplementary.pdf
Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD.
Schwantes-An TH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2026
41514510 (PubMed )
Supplement: LIV-46-0-s001.xlsx › Table_S1
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
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
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Rimbert A et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
33207932 (PubMed )
Supplement: atvb_atvb-2020-315491d_supp2.pdf
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
31653860 (PubMed )
Supplement: 41467_2019_12869_MOESM3_ESM.xlsx › Testing_Cohort_Variants
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
The genomic landscapes of human breast and colorectal cancers.
Wood LD et al.
Science (new York, N.y.), 2007
17932254 (PubMed )
Supplement: 1145720s_tables.zip › 1145720tableS3.xls › Both
The consensus coding sequences of human breast and colorectal cancers.
Sjöblom T et al.
Science (new York, N.y.), 2006
16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1
Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study.
Sürücü Kara İ et al.
Journal of Clinical Lipidology, 0
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