Jianguo Zhang

The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.

PyHFO is a lightweight deep learning platform for efficient HFO detection in EEG data, achieving 50x speed improvements over standard methods.

The paper identifies three causative genes for childhood epileptic encephalopathies through trio-based whole-exome sequencing and individualized analysis of genetic variants.

DNAGPT pre-trains a modified generative pre-trained transformer (GPT) architecture on over 200 billion mammalian base pairs to jointly process sequence and numerical data across diverse DNA analysis tasks.

This study shows that SNCA deletion disrupts olfactory sensory neuron projection via the NCK2-EphA4 pathway, contributing to olfactory deficits in synucleinopathies.

This paper introduces a phenotype-specific framework to identify causative nonsynonymous variants in eye abnormalities, achieving high accuracy and precision in pathogenicity prediction.

This study uses a random forest algorithm to predict gene pathogenicity for Mendelian diseases, achieving 80% accuracy and identifying 10,399 protein-coding genes as potential Mendelian disease genes.