Publications by Margaret M Javier

Publications by authors named "Margaret M Javier"

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Richard H van Jaarsveld Jack Reilly Marie-Claire Cornips Michael A Hadders Emanuele Agolini Margaret M Javier

Genet Med

January 2023

Purpose: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD.

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