Kevin C. Eggan

The paper examines changes in chromosome conformation, nuclear organization, and transcription during motor neuron maturation in control and ALS C9orf72 mutant cells, finding delayed maturation in disease models.

This study investigates the role of KIF5A in axonal transport and repair in human motor neurons, finding that its loss impairs mitochondrial and SFPQ granule transport and axonal regeneration.

The paper identifies cell type-specific molecular changes in ALS patients, showing enrichment of genetic risk factors in extratelencephalic neurons and altered responses in oligodendrocytes and microglia.

The paper investigates the role of CSMD1 in opposing the complement cascade in neural tissues and links its dysfunction to schizophrenia risk.

This study identifies genetic variants associated with cellular morphology using high-content imaging and genomic data from iPSCs.

This paper develops a platform to model and manipulate human microglial states in vitro using single-cell RNA sequencing and genetic tools, identifying disease-associated transcriptional signatures.

The study compares reprogramming methods for 16p11.2 deletion patient iPSCs and finds no significant differences in their differentiation potential into functional neurons.

The paper shows that reduced Kv8.1 expression in ALS motor neurons with SOD1(A4V) and C9orf72 mutations increases vulnerability to cell death by affecting metabolism and transport pathways.

The paper identifies a protein-protein interaction network in human excitatory neurons for 13 ASD risk genes, revealing novel interactions and convergent mechanisms contributing to autism spectrum disorders.

The paper shows that astrocyte-neuron interactions enhance synaptic gene expression in neurons and correlate with schizophrenia risk genes.

This study combines Ngn2 overexpression with small molecule patterning to efficiently generate lower induced Motor Neurons (liMoNes) from hPSCs, achieving high yields and functional characteristics.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

The paper introduces a cloud-based platform for analyzing calcium activity in motor neurons to identify compounds that reverse disease phenotypes in amyotrophic lateral sclerosis.

This study identifies genetic regulators of DNA replication timing in human pluripotent stem cells, revealing a histone code and combinatorial regulatory mechanisms.

The paper identifies a common genetic variant in IFITM3 that explains most inter-individual variation in neural progenitor cell susceptibility to Zika virus using natural genetic variation and synthetic perturbations.

This study shows that TBK1 deficiency in human motor neurons causes TDP-43 proteinopathy through lysosomal dysfunction, and restoring TBK1 rescues the pathology.

Genoppi integrates proteomic and genetic data to identify cell-type-specific interactions and their role in disease.

This study performs whole genome sequencing of human embryonic stem cells to identify genetic variants and provides resources for cell line selection.

The paper performs a genome-wide CRISPR/Cas9 screen to identify modulators of DUX4 cytotoxicity in FSHD but finds no key effectors other than DUX4 itself.

Census-seq pools cells from >100 human donors into "cell villages" and quantifies donor DNA before and after selection to map genetic effects on cellular traits.

This study shows that Cx43 hemichannels in astrocytes contribute to ALS progression and that blocking them can protect neurons and improve survival in ALS models.

The paper develops a stable, multiplexed CRISPRi/a system in hPSCs using fluorescent piggyBac vectors and inducible dCas9 transgenes to enable precise gene modulation and analysis.

The paper presents twelve hiPSC lines with extreme polygenic risk scores for schizophrenia, available for CRISPR-based functional studies.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

The paper introduces an all-optical electrophysiology method called Optopatch to functionally characterize human iPSC-derived motor neurons in ALS models, finding altered electrophysiological properties in SOD1 A4V mutants.

The paper discusses the role of whole genome sequencing in psychiatric disorders through the WGSPD consortium, aiming to assess its utility compared to other genotyping methods.