L. Pons

发表

Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology

R. Touraine, F. Giuliano, G. Dorfmüller, 2020, Child's Nervous System.

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

D. Ville, E. Javouhey, V. Manel, 2015, Child neurology open.

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

M. Till, G. Lesca, D. Sanlaville, 2015, American journal of medical genetics. Part A.

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.

P. Gaucherand, M. Massoud, M. Till, 2017, Journal of gynecology obstetrics and human reproduction.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

N. Brown, H. Peeters, E. Eichler, 2020, American journal of human genetics.

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

G. Lesca, D. Sanlaville, F. Diguet, 2022, European journal of medical genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

V. Portes, G. Lesca, D. Sanlaville, 2020, European journal of medical genetics.

Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.

G. Lesca, I. Sabatier, D. Sanlaville, 2020, European journal of medical genetics.

Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism

M. Massoud, O. Lascols, C. Villanueva, 2020, Molecular Syndromology.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

ZEB2, a new candidate gene for asplenia

S. Dupuis-Girod, M. Rossi, M. Cordier, 2014, Orphanet Journal of Rare Diseases.

A Novel Leptin Receptor LEPR Variant in a Toddler With Early-Onset Fatal Obesity.

M. Nicolino, D. Collin-Chavagnac, L. Pons, 2023, Pediatrics.

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

A. Arzimanoglou, G. Lesca, N. Chatron, 2018, Epileptic disorders : international epilepsy journal with videotape.