Frédéric Laumonnier

15PUBLICATIONS
196CO-AUTHORS
NeonatologyGenome structure and regulationNeurogeneticsNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (15)

|Sep 21, 2026
5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|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

|Apr 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Amélie Cordovado, Yvan Hérenger, Coline Cormier

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Frequent Collaborators

6 joint publications

Sébastien Küry

6 joint publications

Stéphane Bézieau

5 joint publications

Wallid Deb

4 joint publications

Thomas Besnard