Meghan N. Bartos
YOU?
Author Swipe
View article: The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic <i>ANK3</i> variants Open
ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants …
View article: De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay
De novo variants predicting haploinsufficiency for <span><i>DIP2C</i></span> are associated with expressive speech delay Open
The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 reg…