Jean-Madeleine de Sainte-Agathe

21PUBLICATIONS
328CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesToxicology (incl. clinical toxicology)NeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (21)

|Aug 12, 2026
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Mar 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli

|Nov 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Florence Desprez, Solène Remize, Liberty François-Moutal

|Oct 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Alexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post

|Sep 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

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Frequent Collaborators

6 joint publications

Gaetan Lesca

5 joint publications

Anne-Sophie Denommé-Pichon

5 joint publications

Tobias B Haack

4 joint publications

Gael Nicolas