Aurore Garde

9PUBLICATIONS
159CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsEpidemiological methodsEpigenetics (incl. genome methylation and epigenomics)Medical molecular engineering of nucleic acids and proteins
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Publications (9)

|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

|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

|Jul 23, 2025
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.

Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Mar 08, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Benoit Mazel, Julian Delanne, Aurore Garde

|Jan 30, 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Marlène Malbos, Emma Wakeling, Thierry Gautier

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Frequent Collaborators

5 joint publications

Ange-Line Bruel

4 joint publications

Laurence Faivre

4 joint publications

Anne-Sophie Denommé-Pichon

3 joint publications

Arthur Sorlin