Shen Gu

The paper introduces gPRINT, a machine learning tool that identifies disease-specific cell subtypes across datasets by analyzing gene print patterns, and applies it to tendon disease fibroblasts.

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

This paper identifies a cellular mechanism involving giant ankyrin-B that leads to stochastic axon projections and contributes to neurodiversity and ASD.