Associated Papers
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
40076866 (PubMed )
Supplement: ijms-26-02244-s001.zip › ijms-3484719-supplementary.xlsx › data_1
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
33133066 (PubMed )
Supplement: Table_1.xlsx › Germline_SNPs
Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.
Awan ZA et al.
Current Opinion in Lipidology, 2019
Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
Alnouri F et al.
Atherosclerosis, 2018
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
Radovica-Spalvina I et al.
Bmc Medical Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Pooled DNA resequencing of 68 myocardial infarction candidate genes in French canadians.
Beaudoin M et al.
Circulation. Cardiovascular Genetics, 2012
22923420 (PubMed )
Supplement: 963165_supplemental_material.pdf
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
Rabacchi C et al.
Journal of Clinical Lipidology, 0
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