Lydie BURGLEN | Institut Imagine

Presentation

Lydie BURGLEN

Genetics of Neurodevelopmental Disorders

Contact :

lydie.burglen@institutimagine.org

About

Scientific Publications

Publications

2026

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disor..., Am J Hum Genet
2024

The characterization of new de novo CACNA1G variants affecting the intracellu..., Genet Med
2022

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
2021

[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)
2021

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia., Ann Neurol
2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun
2020

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Feta..., Neuron
2020

Regulation of human cerebral cortical development by EXOC7 and EXOC8, compone..., Genet Med
2020

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet
2018

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypopl..., Neuron
2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome., Am J Hum Genet
2015

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ..., Nat Cell Biol
2013

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl..., Hum Mutat
2012

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking i..., Clin Genet