Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Y et al.
Scientific Reports, 2022
35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
Michelini S et al.
Journal of Personalized Medicine, 2022
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
32580631 (PubMed )
Supplement: atvb_atvb-2020-314168d_supp1.pdf
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG et al.
The Journal of Clinical Investigation, 2012
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