D. Méchin

发表

PSMB10, the last immunoproteasome gene missing for PRAAS.

Y. Crow, I. Touitou, D. Duffy, 2019, The Journal of allergy and clinical immunology.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

A. Destée, F. Rousset, Y. Agid, 2008, Neurogenetics.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

F. Rivier, M. Claustres, S. Tuffery-Giraud, 2012, European Journal of Human Genetics.

Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

M. Barat‐Houari, T. Guignard, G. Cambonie, 2022, European Journal of Human Genetics.

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.

M. Koenig, M. Cossée, M. Claustres, 2016, The Journal of molecular diagnostics : JMD.

Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?

J. Pouget, M. Claustres, S. Tuffery-Giraud, 2011, Human mutation.

Dissecting the Structure and Mechanism of a Complex Duplication–Triplication Rearrangement in the DMD Gene

M. Claustres, Jian-Min Chen, F. Baudat, 2013, Human mutation.

Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens

E. Lopez, M. Claustres, M. Taulan, 2010, Journal of Medical Genetics.

FUBP1: a new protagonist in splicing regulation of the DMD gene

K. Mamchaoui, M. Claustres, V. Mouly, 2015, Nucleic acids research.

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS

I. Touitou, A. Mallavialle, F. Apparailly, 2021, Scientific Reports.