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V. Chanavat · SciRah

Researcher profile · Semantic Scholar

V. Chanavat

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V. Chanavat — researcher profile on SciRah

h-index: 13
Works: 18
Citations: 522

Most-cited papers

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
G. Millat, P. Chevalier, L. Restier-Miron, A. Da Costa +10 more
2006Clinical Genetics103 citations
Semantic Scholar
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.
G. Millat, V. Chanavat, R. Rousson
2014Clinica chimica acta; international journal of clinical chemistry64 citations
Semantic Scholar
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy
A. Janin, K. N'guyen, Gilbert Habib, C. Dauphin +6 more
2017Clinical Genetics50 citations
Semantic Scholar
Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction
F. Ramond, A. Janin, S. Di Filippo, V. Chanavat +5 more
2017Clinical Genetics40 citations
Semantic Scholar
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
V. Chanavat, A. Janin, G. Millat
2016Clinica chimica acta; international journal of clinical chemistry33 citations
Semantic Scholar
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
G. Millat, V. Chanavat, R. Rousson
2014Molecular Diagnosis & Therapy33 citations
Semantic Scholar
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
G. Millat, V. Chanavat, C. Rodriguez-Lafrasse, R. Rousson
2009Clinical Biochemistry33 citations
Semantic Scholar
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
G. Millat, V. Chanavat, S. Julia, Hervé Créhalet +2 more
2009Clinical Biochemistry31 citations
Semantic Scholar
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy
A. Janin, V. Chanavat, P. Rollat-Farnier, C. Bardel +8 more
2019Human Mutation28 citations
Semantic Scholar
TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome.
A. Janin, Francis Bessière, Tudor Georgescu, V. Chanavat +2 more
2019European Journal of Medical Genetics27 citations Open access
Semantic Scholar
Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.
E. Schaefer, P. Helms, L. Marcellin, P. Desprez +4 more
2014European Journal of Medical Genetics27 citations
Semantic Scholar
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
G. Millat, V. Chanavat, Hervé Créhalet, R. Rousson
2010Clinica chimica acta; international journal of clinical chemistry24 citations
Semantic Scholar
Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy.
V. Chanavat, M. Séronde, Patrice Bouvagnet, P. Chevalier +2 more
2012European Journal of Medical Genetics15 citations
Semantic Scholar
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
G. Millat, V. Chanavat, Hervé Créhalet, R. Rousson
2011Clinica chimica acta; international journal of clinical chemistry11 citations
Semantic Scholar
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
L. Januel, V. Chanavat, P. Rollat-Farnier, C. Bardel +3 more
2021DNA and Cell Biology2 citations
Semantic Scholar
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
G. Millat, V. Chanavat, R. Rousson
2014Molecular Diagnosis & Therapy1 citations
Semantic Scholar
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis
Gilles Millat, K. Messaoudi, V. Chanavat, Q. Testard +4 more
2026Clinical Chemistry and Laboratory Medicine0 citations
Semantic Scholar
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.
Lisa Jeanpetit, C. Molitor, A. Janin, A. Fonteille +15 more
2026Atherosclerosis0 citations Open access
Semantic Scholar

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