Author

Déborah Méchin

Observed names: D Mechin, D Méchin, D. Mechin, Déborah Mechin

Institutions: Inserm, Université de Montpellier, Centre Hospitalier Universitaire de Montpellier, Institute for Regenerative Medicine & Biotherapy, Centre de Référence des Maladies Autoinflammatoires et des Amyloses

Observed institutions: Inserm, Université de Montpellier, Centre Hospitalier Universitaire de Montpellier, Institute for Regenerative Medicine & Biotherapy, Centre de Référence des Maladies Autoinflammatoires et des Amyloses, Hôpital Saint Eloi, Hôpital Arnaud de Villeneuve

OpenAlex ID: A5000759984

PSMB10, the last immunoproteasome gene missing for PRAAS

2019 · Guillaume Sarrabay, Déborah Méchin, et al. · Journal of Allergy and Clinical Immunology · 65

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

2015 · Julie Miro, Abdelhamid Mahdi Laaref, et al. · Nucleic Acids Research · 41

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

2011 · Mouna Messaoud Khelifi, Aliya Ishmukhametova, et al. · Human Mutation · 34

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

2013 · Aliya Ishmukhametova, Jian-Min Chen, et al. · Human Mutation · 33

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

2012 · Aliya Ishmukhametova, Philippe Khau Van Kien, et al. · European Journal of Human Genetics · 29

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

2010 · Estelle Lopez, Victoria Viart, et al. · Journal of Medical Genetics · 27

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

2016 · Melissa Alame, Delphine Lacourt, et al. · Journal of Molecular Diagnostics · 19

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

2022 · Constance F. Wells, Guilaine Boursier, et al. · European Journal of Human Genetics · 13

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

2008 · M. Y. Frédéric, F. Clot, et al. · Neurogenetics · 6

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

2021 · Cécile Rittore, Déborah Méchin, et al. · Scientific Reports · 4

A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene

2025 · Déborah Méchin, Maud Tusseau, et al. · The Journal of Allergy and Clinical Immunology In Practice · 3

First report of MEFV gene duplication in a patient with familial Mediterranean fever.

2020 · Déborah Mechin, Anna Durinikova, et al. · PubMed · 3

NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier

2015 · G Sarrabay, G Tachon, et al. · Pediatric Rheumatology · 3

First report of MEFV duplication in FMF patient

2015 · G Sarrabay, D Méchin, et al. · Pediatric Rheumatology

Works count: 14

Citation count: 280

H-index: 8

I10-index: 8