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 · 36 citations · Full text

Giant Titin, Functional Genomics, Engineering +12

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

Genetics, Pathology, Molecular Genetics +20

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 · 22 citations

Bioinformatics, Long-read Sequencing, Dna Sequencing +15

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

J Géraud, Klaus Dieterich, John Rendu et al. · Journal of Medical Genetics · 2020 · 20 citations · Full text

Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress

Marie-Céline François-Heude, Ulrike Walther‐Louvier, Caroline Espil‐Taris et al. · European Journal of Paediatric Neurology · 2021 · 12 citations · Full text

Neonatology, Next-generation Sequencing, Pediatric Lung Disease +3