Gwenaël Le Guyader

6PUBLICATIONS
68CO-AUTHORS
Developmental genetics (incl. sex determination)Cellular nervous systemGene expression (incl. microarray and other genome-wide approaches)Medical mycologyNeurogenetics
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Publications (6)

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Mar 20, 2025
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Ange-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan

|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

|May 15, 2023
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

Malek Bouassida, Matthieu Egloff, Jonathan Levy

|Sep 08, 2022
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.

Konrad Platzer, Heinrich Sticht, Caleb Bupp

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Frequent Collaborators

3 joint publications

Radka Stoeva

3 joint publications

Estelle Colin

3 joint publications

Konrad Platzer

2 joint publications

Emily E Lubin