Christophe Pecheux

Marseille, France

Last Updated: 09/26/2026

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Found 8 publications

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 01, 2020

Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.

Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.

Journal: Genome medicine

Published: August 27, 2020

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

In utero seizures revealing dentato-olivary dysplasia caused by SCN2A mutation.

Journal: Neuropathology and applied neurobiology

Published: February 02, 2017

Next-generation DNA sequencing in clinical diagnostics

Next-generation DNA sequencing in clinical diagnostics

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: May 10, 2016

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Journal: Journal of genetics

Published: March 29, 2016

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Journal: Neurology India

Published: January 17, 2015

Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks.

Rhinal hypometabolism on FDG PET in healthy APO-E4 carriers: impact on memory function and metabolic networks.

Journal: European journal of nuclear medicine and molecular imaging

Published: January 13, 2015

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes.

Journal: Clinical genetics

Published: December 14, 2011

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Last Updated: 09/26/2026