Henri Pégeot

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes

Reda Zenagui, Delphine Lacourt, Henri Pégeot et al. · Journal of Molecular Diagnostics · 2018 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Aurélien Perrin, Raúl Juntas‐Morales, François Rivier et al. · Neuromuscular Disorders · 2020 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

Kévin Yauy, David Baux, Henri Pégeot et al. · Journal of Molecular Diagnostics · 2018 · 23 citations

Life Sciences, Bioinformatics, Genetics +17

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

J Géraud, John Rendu, Emmanuelle Uro Coste et al. · Journal of Medical Genetics · 2020 · 20 citations · Full text

Medicine, Genetics, Molecular Genetics +16

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Raúl Juntas Morales, Aurélien Perrin, Guilhem Solé et al. · Genes · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17