James Ellis

This study presents a one-step protocol to differentiate hiPSCs into functional astrocytes, enabling co-culture with neurons to support network development.

This study investigates how 7q11.23 copy number variations disrupt brain organoid development, showing structural and functional abnormalities in neural circuits and spine morphology.

This study shows that SHANK2 variants cause hypersynchronous neuronal network activity in human iPSC-derived neurons, which is rescued by mGluR5 agonism.

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

The paper shows that disease-linked shank2 mutations alter condensate physical properties and composition, leading to aberrant RNA translation.

The paper identifies miRNAs selectively loaded into extracellular vesicles from healthy human astrocytes and links them to neurodevelopmental disorders.

This study shows that a myosin ATPase inhibitor reverses HCM phenotypes in pediatric iPSC-cardiomyocytes, with effects dependent on the underlying genetic variant.

This study identifies hyperexcitable network events called reverberating super bursts in MECP2 null neuronal networks and shows they can be mitigated by a calcium chelator.

This study differentiates human hindbrain neuroepithelial stem cells into cerebellar granule neurons in vitro, recapitulating key progenitor states and showing SHH's role in lineage specification and maturation.

The paper investigates how mRNA half-life buffers transcription rate changes in Rett syndrome models, identifying post-transcriptional mechanisms in human and mouse neurons.

The paper measures transcription rate and mRNA half-life changes during human neuronal development and identifies transcriptional buffering as the most prevalent mode of gene regulation.

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

This study examines the effects of MECP2 mutations on neuronal and network phenotypes in human stem cell-derived excitatory neurons, showing a spectrum of morphological, electrophysiological, and circuitry changes based on mutation severity.

The paper identifies TIA1 mRNA targets during human neuronal development and shows that TIA1 binding is associated with translation repression and neurodevelopmental gene regulation.

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

The paper shows that codon usage and amino acid identity significantly influence mRNA stability in humans, affecting protein abundance through translational elongation rates.

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.