Hane Lee

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

This paper introduces a deep learning model using multiple instance learning and learning to rank to prioritize variants in rare Mendelian disease genomic testing, achieving high accuracy in identifying disease-causing variants.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

The paper develops a system that integrates variant quality control into prioritization to improve the accuracy of identifying disease-causing variants in rare disorders.

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.

This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.