Valérie Cormier-Daire

35PUBLICATIONS
235CO-AUTHORS
Infant and child healthMedical mycologyGene and molecular therapyOtorhinolaryngologyEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (35)

|Aug 21, 2026
Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

|Jul 07, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

|Jun 10, 2026
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

|Jun 10, 2026
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.

|May 22, 2026
Rare disease care pathways profile in France: leveraging hospital big data to characterize natural history in osteogenesis imperfecta.

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

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Frequent Collaborators

3 joint publications

Martin Zenker

3 joint publications

Klaus Mohnike

3 joint publications

Mohamad Maghnie

2 joint publications

Marie Vincent