Joohyun Park

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study identifies SerpinOLs as injury-responsive oligodendrocytes that modulate neuroinflammation and glial activation in both diseased and healthy CNS conditions.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This study investigates the role of Serpina3n in postnatal brain development and myelination, finding it dispensable under homeostatic conditions but involved in oxidative stress responses.

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

This study shows that PAK1 regulates OPC proliferation and repopulation, with mutations affecting oligodendroglial development and myelination.

The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.