Jamal Ghoumid

17PUBLICATIONS
113CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Molecular targetsGene mappingDevelopmental genetics (incl. sex determination)
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Publications (17)

|Aug 14, 2026
Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

|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

|Apr 05, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Jade Fauqueux, Roseline Caumes, Cindy Colson

|Jul 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Juliette Coursimault, Kévin Cassinari, François Lecoquierre

|Apr 19, 2021
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.

E El Khouri, J Ghoumid, D Haye

|Apr 15, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Judith Halewa, Sylviane Marouillat, Manon Dixneuf

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Frequent Collaborators

7 joint publications

Thomas Smol

5 joint publications

Florence Petit

2 joint publications

Gaël Nicolas

2 joint publications

François Lecoquierre