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Gaëtan Lesca | Researchclopedia

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Gaëtan Lesca

Université Claude Bernard Lyon 1 ORCID

442

Works

14,525

Citations

67

h-index

221

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

Université Claude Bernard Lyon 12002–2025

Northwestern University2022–2022

University of Geneva2014–2014

Università degli Studi del Piemonte Orientale “Amedeo Avogadro”2025–2025

Hôpital Necker-Enfants Malades2024–2024

Top Works

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff,Katrine M. Johannesen,et al.

2017567 citations

Epilepsy research and treatment

Ion channel regulation and function

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

Gaëtan Lesca,Gabrielle Rudolf,et al.

2013438 citations

The adult form of Niemann-Pick disease type C

M. Sévin,Gaëtan Lesca,et al.

2006388 citations

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi,Jennifer Kerkhof,et al.

2020320 citations

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Claire Redin,Bénédicte Gérard,et al.

2014272 citations

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari,Fabienne Picard,et al.

2018237 citations

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

Gaëtan Lesca,Carla Olivieri,et al.

2007226 citations

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow,Henrike Heyne,et al.

2018223 citations

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Éléonore Eymard-Pierre,Gaëtan Lesca,et al.

2002223 citations