Xueya Zhou

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

The paper identifies LONP1 and ALYREF as new candidate risk genes for congenital diaphragmatic hernia through de novo and ultra-rare variant analyses in proband-parent trios and population controls.

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

The paper uses single-cell RNA-seq data to develop a machine learning method called A-risk to prioritize autism risk genes, identifying 71 candidates including new ones like CLCN4, PRKAR1B, and NR2F1.

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

The paper uses polygenic scores to show genetic overlaps between lumbar disc degeneration and height, BMI, and BMD in Chinese and Japanese cohorts.

The paper analyzes de novo variants in congenital diaphragmatic hernia cases to identify sex differences and a new candidate gene MYRF.

This paper introduces lassosum, a penalized regression method for constructing polygenic scores using summary statistics and a reference panel, showing improved accuracy and efficiency compared to existing methods.