Paco Derouault

发表

Evolution of the Banana Genome (Musa acuminata) Is Impacted by Large Chromosomal Translocations

K. Labadie, M. Rouard, A. D'Hont, 2017, Molecular biology and evolution.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

A. Toutain, L. Pasquier, L. Richard, 2019, Molecular genetics & genomic medicine.

Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma

F. Labrousse, K. Durand, P. Derouault, 2019, Journal of Neuro-Oncology.

Normal serum protein electrophoresis and mutated IGHV genes detect very slowly evolving chronic lymphocytic leukemia patients

P. Derouault, A. Jaccard, J. Feuillard, 2018, Cancer medicine.

Flow cytometry detection of CD138 expression continuum between monotypic B and plasma cells is associated with both high IgM peak levels and MYD88 mutation and contributes to diagnosis of Waldenström macroglobulinemia

P. Derouault, J. Feuillard, Virginie Pascal, 2021, Cytometry. Part B, Clinical cytometry.

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

P. Latour, F. Sturtz, P. Derouault, 2019, Journal of the peripheral nervous system : JPNS.

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

F. Sturtz, P. Derouault, C. Laroche-Raynaud, 2020, BMC Medical Genomics.

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

A. Magot, F. Sturtz, C. Sarret, 2021, Annals of clinical and translational neurology.

Two large reciprocal translocations characterized in the disease resistance-rich burmannica genetic group of Musa acuminata

A. Lemainque, C. Cruaud, K. Labadie, 2019, Annals of botany.

Distinct B-Cell Specific Transcriptional Contexts of the BCL2 Oncogene Impact Pre-Malignant Development in Mouse Models

K. Tarte, M. Cogné, C. Carrion, 2022, Cancers.

UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

A. Fischer, A. Durandy, M. Cogné, 2021, Frontiers in Immunology.

RNA-based immunoglobulin repertoire sequencing is a new tool for the management of monoclonal gammopathy of renal (kidney) significance.

M. Cogné, P. Derouault, M. Alizadeh, 2021, Kidney international.

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

P. Cintas, F. Sturtz, P. Derouault, 2020, Brain sciences.

Diverse B-cell specific transcriptional contexts of the BCL2 oncogene in mouse models impacts pre-malignant development

K. Tarte, M. Cogné, C. Carrion, 2021 .

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

F. Sturtz, M. Fradin, P. Derouault, 2021, Computational and structural biotechnology journal.

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy

L. Richard, J. Vallat, F. Sturtz, 2023, Biomedicines.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

B. Acket, F. Sturtz, E. Bieth, 2019, Molecular genetics & genomic medicine.

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer

Paco Derouault, Jasmine Chauzeix, David Rizzo, 2020, PLoS Comput. Biol..

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene

F. Sturtz, C. Goizet, P. Derouault, 2022, Journal of personalized medicine.