Severine Nony
Lyon, France
Last Updated: 09/26/2026
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Found 15 publications
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.
Journal: Atherosclerosis
Published: November 08, 2025
Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.
Journal: Atherosclerosis
Published: March 23, 2025
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
Journal: Clinical chemistry and laboratory medicine
Published: March 31, 2023
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Journal: British journal of haematology
Published: January 03, 2023
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Journal: International journal of molecular sciences
Published: February 13, 2022
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
Journal: DNA and cell biology
Published: January 25, 2021
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Journal: Human mutation
Published: August 26, 2019
Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia.
Journal: Atherosclerosis
Published: November 14, 2018
Last Updated: 09/26/2026