Associated Papers
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
40249815 (PubMed )
Supplement: sciadv.ads7903_data_s1.zip › ads7903_data_s1.xlsx › VariantTable_121
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
The Arg82Cys Polymorphism of the Protein Nepmucin Implies a Role in HDL Metabolism.
Metz S et al.
Journal of the Endocrine Society, 2022
Acute metabolic effects of melatonin-A randomized crossover study in healthy young men.
Kampmann U et al.
Journal of Pineal Research, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Natarajan P et al.
Nature Communications, 2018
30140000 (PubMed )
Supplement: 41467_2018_5747_MOESM1_ESM.pdf
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S6
Analysis with the exome array identifies multiple new independent variants in lipid loci.
Kanoni S et al.
Human Molecular Genetics, 2016
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A et al.
Nature Genetics, 2016
The impact of low-frequency and rare variants on lipid levels.
Surakka I et al.
Nature Genetics, 2015
Reduced CD300LG mRNA tissue expression, increased intramyocellular lipid content and impaired glucose metabolism in healthy male carriers of Arg82Cys in CD300LG: a novel genometabolic cross-link between CD300LG and common metabolic phenotypes.
Støy J et al.
Bmj Open Diabetes Research & Care, 2015
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Albrechtsen A et al.
Diabetologia, 2013
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