Associated Papers
Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.
Pan-Lizcano R et al.
International Journal of Molecular Sciences, 2022
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
A subregion-based burden test for simultaneous identification of susceptibility loci and subregions within.
Zhu B et al.
Genetic Epidemiology, 2018
Structures of Angptl3 and Angptl4, modulators of triglyceride levels and coronary artery disease.
Biterova E et al.
Scientific Reports, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing Study.
Lin WY
Scientific Reports, 2016
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
Ionita-Laza I et al.
Plos Genetics, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Holmen OL et al.
Nature Genetics, 2014
Phylogenetics applied to genotype/phenotype association and selection analyses with sequence data from angptl4 in humans.
Maxwell TJ et al.
International Journal of Molecular Sciences, 2010
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
Romeo S et al.
The Journal of Clinical Investigation, 2009
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.
Romeo S et al.
Nature Genetics, 2007
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