Weilai Dong

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

The paper uses a Markov Random Field model with protein-protein interaction data to identify 46 candidate genes for congenital heart disease, including known and highly expressed genes.

M-DATA improves statistical power for identifying risk genes by jointly analyzing de novo mutations across multiple traits, demonstrating its effectiveness in congenital heart disease and autism.

This study shows that CHD8 deficiency in human iPSCs increases cell proliferation and delays neural differentiation, potentially contributing to ASD pathophysiology.