Valerie Chanavat

Centre De Biologie Et Pathologie Est
Lyon, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 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

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

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

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.

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

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.

Journal: European journal of medical genetics

Published: March 20, 2018

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.

Journal: Clinical genetics

Published: February 16, 2017

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.

Journal: Clinical genetics

Published: December 21, 2015

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: September 29, 2015

Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.

Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.

Journal: Molecular diagnosis & therapy

Published: April 02, 2014

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 15, 2013

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

Journal: European journal of medical genetics

Published: July 19, 2013

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.

Journal: European journal of medical genetics

Published: November 22, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026