Lydie Burglen

15PUBLICATIONS
195CO-AUTHORS
Nutrigenomics and personalised nutritionInfant and child healthNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Neurogenetics
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Publications (15)

|Mar 11, 2026
Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disorders.

Gwenaëlle Diene, Grégoire Benvegnu, Cathy Brochado

|Feb 20, 2026
Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

Léa Schieffer, Catherine Garel, Laurent Guibaud

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Jun 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison

|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Camille Engel, Stéphanie Valence, Geoffroy Delplancq

|Jun 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Katie L Ayers, Stefanie Eggers, Ben N Rollo

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Frequent Collaborators

4 joint publications

Henry Houlden

3 joint publications

Stephanie Valence

3 joint publications

Stephanie Efthymiou

2 joint publications

Katie L Ayers