Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder
Article in Journal of Human Genetics (March 2024)
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To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders
Article in Neuroscience & Biobehavioral Reviews (June 2023)
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder
Article in American Journal of Medical Genetics Part A (June 2023)