Elaine T. Lim

The paper develops an artificial neural network approach to integrate 2D/3D single-cell spatial RNA sequence data from virus-infected human cerebral organoids to study neurodegenerative disease mechanisms.

This study develops a high-throughput platform using human cerebral organoids to screen for compounds that reverse HSV-1-induced neuroinflammation biomarkers associated with Alzheimer's disease.

The paper screens cerebrospinal fluid from MS and non-MS patients using a multiplex peptide library to identify microbial and autoantigenic epitopes enriched in MS.

This study shows that ALS-linked PFN1 mutations impair vesicular degradation in iPSC-derived microglia by disrupting autophagy, which can be mitigated by Rapamycin.

The paper introduces a method to multiplex reprogram somatic cells into iPSCs and estimates donor contributions using pooled sequencing and SNPs, finding consistent reprogramming ability across donors.

The paper investigates the association between mitochondrial variant MT:10398A>G and heteroplasmy in brain tissue and lymphoblastoid cell lines, identifying its role in mitochondrial function and disease phenotypes.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper identifies cell type specific driver genes in autism-associated copy number loci using cerebral organoids and validates findings with CRISPR/Cas9-edited mosaic organoids.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

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.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.