Alexandre Janin

Centre De Biologie Et Pathologie Est
Lyon, France

Last Updated: 09/26/2026

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Found 54 publications

Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis.

Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis.

Journal: Clinical chemistry and laboratory medicine

Published: April 08, 2026

LMNA c.1609-3C>G is a French-Canadian Founder Variant With Age-Dependent Sequential Cardiac Abnormalities.

LMNA c.1609-3C>G is a French-Canadian Founder Variant With Age-Dependent Sequential Cardiac Abnormalities.

Journal: The Canadian journal of cardiology

Published: March 15, 2026

Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: Whole-genome sequencing and functional assessment.

Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: Whole-genome sequencing and functional assessment.

Journal: British journal of haematology

Published: March 09, 2026

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Characterisation of a Missense Variant of the Alström Syndrome Centrosome and Basal Body Associated Protein (ALMS1) Gene Associated with Cardiomyopathy Using Induced Pluripotent Stem Cells.

Journal: Genes

Published: December 08, 2025

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Journal: Atherosclerosis

Published: November 08, 2025

NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophy.

NuMA1 controls myonuclear motility in striated skeletal muscle through AMPK activity and is impaired in Duchenne muscular dystrophy.

Journal: Cell death & disease

Published: October 20, 2025

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.

Journal: The Journal of physiology

Published: July 29, 2025

Functional Evaluation of Splice Variants Using a Minigene Strategy.

Functional Evaluation of Splice Variants Using a Minigene Strategy.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: July 23, 2025

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 28, 2025

Arrhythmogenic Cardiomyopathy Is a New Phenotype Associated With the CACNA1C p.Arg518Cys (R518C) Variant.

Arrhythmogenic Cardiomyopathy Is a New Phenotype Associated With the CACNA1C p.Arg518Cys (R518C) Variant.

Journal: JACC. Clinical electrophysiology

Published: May 09, 2025

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: March 23, 2025

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: January 24, 2025

Showing 1-12 of 54

Last Updated: 09/26/2026