Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.

Kanako IshizukaTomoyuki YoshidaTakeshi KawabataAyako ImaiHisashi MoriHiroki KimuraToshiya InadaYuko OkahisaJun EgawaMasahide UsamiItaru KushimaMako MorikawaTakashi OkadaMasashi IkedaAleksic BrankoDaisuke MoriToshiyuki SomeyaNakao IwataNorio Ozaki

Published in: Journal of neurodevelopmental disorders (2020)

The combined data suggest that missense variants in NRXN1 could be associated with phenotypes of neurodevelopmental disorders beyond the diagnosis of ASD and/or SCZ.

Keyphrases

autism spectrum disorder
intellectual disability
copy number
attention deficit hyperactivity disorder
bipolar disorder
electronic health record
big data
genome wide
machine learning
dna methylation
artificial intelligence
deep learning
working memory
congenital heart disease