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
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
ENaC gene variants and their involvement in Covid‑19 severity.
Koniari E et al.
Biomedical Reports, 2024
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.
Limonova AS et al.
Frontiers in Cardiovascular Medicine, 2021
Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.
Khlebus E et al.
Plos One, 2019
Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.
Zhou Y et al.
Journal of Lipid Research, 2018
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 2018
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Van Allen EM et al.
Oncotarget, 2016
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Yu HC et al.
Cold Spring Harbor Molecular Case Studies, 2016
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.
Beaudoin M et al.
Circulation. Cardiovascular Genetics, 2012
Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.
Alex L et al.
Journal of Human Genetics, 2012
Testing for an unusual distribution of rare variants.
Neale BM et al.
Plos Genetics, 2011