Brian Hon‐Yin Chung

DeepSeek as the paradigm shift in rare disease diagnosis-the power of a fully automated genetic variant classification system

This study develops a fully automated genetic variant classification framework using LLMs, achieving high sensitivity and 100% specificity in interpreting ACMG rules and matching human curators on curated variants.

Genomic and biological panoramas of non-muscle actinopathies

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.