Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer Howe, Jacob A. S. Vorstman, , Stephen W. Scherer
The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.
Nature Communications · Oct 29, 2022Peer-reviewedGenetic & Genomic Medicine