Author

Laure de Pontual

Inserm

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Cheryl R. Heiner· 1 shared Denis FurlingiD· 1 shared Geneviève GourdoniD· 1 shared Guillaume BasseziD· 1 shared Stéphanie ToméiD· 1 shared Tanya StojkoviciD· 1 shared Yu‐Chih TsaiiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperMolecular Biology

Cheryl R. Heiner

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1 paper

Recent·Most cited

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Yu‐Chih Tsai, Laure de Pontual, Cheryl R. Heiner, Tanya Stojkovic, Denis Furling, Guillaume Bassez, Geneviève Gourdon, Stéphanie Tomé

The paper develops an amplification-free long-read sequencing method using CRISPR/Cas9 to accurately measure CTG repeat expansions in DM1 patients, identifying a CCG-enriched expanded allele.

Journal of Molecular Diagnostics · Sep 7, 2022Peer-reviewedMolecular Biology