Elodie Sanchez

Montpellier, France

Last Updated: 09/26/2026

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Found 29 publications

Chromatin condensates tune nuclear mechanosensing and preserve nuclear integrity to prevent cGAS activation.

Chromatin condensates tune nuclear mechanosensing and preserve nuclear integrity to prevent cGAS activation.

Journal: The EMBO journal
Published: October 08, 2025

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Journal: European journal of human genetics : EJHG
Published: September 19, 2025

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2023

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Journal: European journal of medical genetics
Published: November 24, 2022

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Journal: European journal of human genetics : EJHG
Published: April 01, 2021

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.

Journal: Arthritis & rheumatology (Hoboken, N.J.)
Published: March 13, 2020

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

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

Journal: Scientific reports
Published: September 26, 2019

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A
Published: September 11, 2019

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 12, 2019

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 06, 2019

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.

Journal: European journal of human genetics : EJHG
Published: October 26, 2018

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Journal: NeuroImage. Clinical
Published: April 09, 2018
Showing 1-12 of 29

Last Updated: 09/26/2026