Associated Papers
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.
Garcia CAB et al.
Genes, 2025
40282380 (PubMed )
Supplement: genes-16-00421-s001.zip › Table_S2_Candidate_Somatic_Variants.xlsx › Sheet1
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.
Bloyd M et al.
Frontiers in Endocrinology, 2023
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Iotchkova V et al.
Nature Genetics, 2016
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