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Thauvin-Robinet, C.
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Faivre, L.
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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis