Associated Papers
Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.
Abraham N et al.
Scientific Reports, 2026
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
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
Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation.
Dolin RH et al.
Journal of the American Medical Informatics Association : Jamia, 2025
Homozygous Familial Hypercholesterolemia in Spain: Data From Registry of the Spanish Atherosclerosis Society.
Sánchez-Hernández RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.
Atava I et al.
International Journal of Molecular Sciences, 2024
KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.
Mondal K et al.
Cells, 2024
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
Latkovskis G et al.
Journal of Clinical Medicine, 2023
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H et al.
Journal of Atherosclerosis and Thrombosis, 2020
Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia.
López G et al.
Atherosclerosis, 2018
Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.
Hsiung YC et al.
Atherosclerosis, 2018
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.
Stef MA et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L et al.
Atherosclerosis, 2012
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Molecular Genetics and Genomics : Mgg, 2010
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R et al.
Atherosclerosis, 2008
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML et al.
Genetic Counseling (geneva, Switzerland), 2008
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
Robles-Osorio L et al.
Archives of Medical Research, 2006
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Guerin A et al.
Cmaj Open, 0