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Publications by Christel Depienne

Deleterious Variation in BRSK2 Associates With a Neurodevelopmental Disorder

American Journal of Human Genetics

English

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

Delineating the GRIN1 Phenotypic Spectrum

English

Cover Image, Volume 39, Issue 1

English

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

Pitfalls in Genetic Testing: The Story of missedSCN1Amutations

Molecular genetics & genomic medicine

Molecular Biology

English