Marie-Laure Vuillaume

14PUBLICATIONS
64CO-AUTHORS
NeonatologyDevelopmental genetics (incl. sex determination)Immunogenetics (incl. genetic immunology)NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (14)

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

|Nov 13, 2025
Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

A Civit, L Kerbellec, D Laurenceau

|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

|Jan 08, 2025
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

Rajech Sharkia, Marie-Laure Vuillaume, Sahil Jain

|Nov 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Antoine Civit, Nathalie Ronce, Benjamin Cogné

|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

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Frequent Collaborators

3 joint publications

Annick Toutain

2 joint publications

Irene Valenzuela

2 joint publications

Anne-Sophie Denommé-Pichon

2 joint publications

Rajesh Angireddy