Laurent Villard

Centre National de la Recherche Scientifique — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index8.3kcitations314works3.52yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetics and Neurodevelopmental Disorders(158), Genomics and Rare Diseases(38), Autism Spectrum Disorder Research(28), Genomic variations and chromosomal abnormalities(28), RNA regulation and disease(25)

Publications311 total

Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes
EBioMedicine·2025Open Access
Long‐term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain <scp>MRI</scp>
Epilepsia Open·2025Open Access
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
European Journal of Neurology·2025· 3 citedOpen Access
Long‐term treatment with carbamazepine restores cognitive abilities in a mouse model of <i>KCNQ2</i> developmental and epileptic encephalopathy
Epilepsia Open·2025· 2 citedOpen Access
<scp><i>GABRA2</i></scp>‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
Epilepsia·2025· 1 citedOpen Access
Broadening the phenotype associated with pathogenic variants in the <i>FGF12</i> gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome
Epilepsia·2025· 1 citedOpen Access
Poor Association Between Clinical Characteristics and Seropositivity in Children With Suspected Long <scp>COVID</scp> —A Single‐Centre Study
Acta Paediatrica·2025· 1 citedOpen Access
Imaging Brain Development in a KCNQ2-Developmental and Epileptic Encephalopathy Mouse Model: Identifying Early Biomarkers for Functional and Structural Brain Changes
SSRN Electronic Journal·2025Open Access
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
The American Journal of Human Genetics·2024· 4 citedOpen Access
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Genetics in Medicine·2024· 1 citedOpen Access
Loss of NDST1 <i>N</i>-sulfotransferase activity is associated with autosomal recessive intellectual disability
Human Molecular Genetics·2023· 4 citedOpen Access
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
European Journal of Human Genetics·2023· 9 citedOpen Access
Faculty Opinions recommendation of A draft human pangenome reference.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature·2023
N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant
Clinical Neurophysiology·2023
Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE
Epilepsy Research·2023· 1 citedOpen Access
<i>NAPB</i> and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
Epilepsia·2023· 6 citedOpen Access
Faculty Opinions recommendation of Chemistry, structure and function of approved oligonucleotide therapeutics.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature·2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Journal of Medical Genetics·2023· 2 citedOpen Access
The different clinical facets of SYN1-related neurodevelopmental disorders
Frontiers in Cell and Developmental Biology·2022· 28 citedOpen Access
Faculty Opinions recommendation of On-demand cell-autonomous gene therapy for brain circuit disorders.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature·2022
page 1 of 16Next →

Frequent Co-authors

Mathieu Milh(12), Pierre Cacciagli(11), Gaëtan Lesca(10), B. Chabrol(10), Cyril Mignot(9), Nathalie Villeneuve(8), Jean‐Christophe Roux(7), Agathe Roubertie(7), Anne Moncla(6), Carlos Cardoso(6), Chantal Missirian(6), Dorothée Ville(5), Alexandra Afenjar(5), Caroline Nava(5), Bertrand Isidor(5), Caroline Lacoste(5), Nicole Philip(5), Diane Doummar(4), Jamel Chelly(4), Cécile Mignon‐Ravix(4)