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Publications by Julien Thevenon

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Molecular Medicine

English

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics

English

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

American Journal of Human Genetics

English

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

Heterozygous Deletion of the LRFN2 Gene Is Associated With Working Memory Deficits

European Journal of Human Genetics

English