Associated Papers
Using the ancestral recombination graph to study the history of rare variants in founder populations.
Mejia-Garcia A et al.
American Journal of Human Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.
Larouche M et al.
Journal of the Endocrine Society, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
Genetic basis of hypertriglyceridemia.
Ariza Corbo MJ et al.
Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS et al.
Nature Medicine, 2023
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Rare Variants in Triglycerides-Related Genes Increase Pancreatitis Risk in Multifactorial Chylomicronemia Syndrome.
Paquette M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
The burden of familial chylomicronemia syndrome in Canadian patients.
Gaudet D et al.
Lipids in Health and Disease, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.
Paquette M et al.
Atherosclerosis, 2019
Disappearance of recurrent pancreatitis after splenectomy in familial chylomicronemia syndrome.
Marco-Benedí V et al.
Atherosclerosis, 2018
Efficacy and Safety of Lomitapide in Hypercholesterolemia.
Liu X et al.
American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions, 2017
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Rabacchi C et al.
Atherosclerosis, 2015
Exome sequencing: new insights into lipoprotein disorders.
Farhan SM et al.
Current Cardiology Reports, 2014
Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide.
Sacks FM et al.
Jama Internal Medicine, 2014
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
Martín-Campos JM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.
Reddy MV et al.
Circulation. Cardiovascular Genetics, 2012
Common mutations of the lipoprotein lipase gene and their clinical significance.
Gehrisch S
Current Atherosclerosis Reports, 1999
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
Rodrigues R et al.
Journal of Clinical Lipidology, 0
Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.
De Castro-Orós I et al.
Journal of Clinical Lipidology, 0
Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.
Hegele RA et al.
Journal of Clinical Lipidology, 0
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study.
Blom DJ et al.
Journal of Clinical Lipidology, 0
Differential effects of volanesorsen on apoC-III, triglycerides, and pancreatitis in familial chylomicronemia syndrome diagnosed by genetic or nongenetic criteria.
Tsimikas S et al.
Journal of Clinical Lipidology, 0