Laure de Pontual

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Active since

2021

Affiliations

Pacific Biosciences (United States)(Current)

Sorbonne Université

Centre de Recherche en Myologie

Inserm

Institut de Myologie

Laure de Pontual is an author at Pacific Biosciences (United States) specializing in molecular genetic diagnosis, genetic disorders, and molecular genetics.

Publications per year

2021–2022

Publications

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

Antoine Mangin, Laure de Pontual, Yu‐Chih Tsai et al. · International Journal of Molecular Sciences · 2021 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing

Yu‐Chih Tsai, Laure de Pontual, Cheryl Heiner et al. · Journal of Molecular Diagnostics · 2022 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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