Author
Children's Mercy Hospital
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
2 papers
Recent·Most cited
Maolei Gong, Jiayi Li, Yijun Liu…·Xiaoli Chen
This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.
Ana S.A. Cohen, Emily Farrow, Ahmed T. Abdelmoity…·Tomi Pastinen
The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.