Gary Jonathan Bassell

Quanta microscopy enables high-speed fluorescence imaging at the native bit-plane rate by reconstructing multibit images from sparse photon-detection maps.

This study identifies dysregulated synaptic microRNAs in 22q11DS neurons that drive aberrant glutamatergic transmission and synaptic plasticity, linking genetic deletion to psychosis risk.

This study develops a scalable neuromuscular organoid platform to analyze drug responses in spinal muscular atrophy, showing distinct muscle and neuronal responses to SMN2 splicing modulators.

This study identifies disulfide bonds mediating MBNL1 and MBNL2 dimerization, showing their role in alternative splicing regulation and RNA foci formation in myotonic dystrophy.

The paper investigates how neurodevelopmental disorder-associated variants affect mitochondrial proteins and finds convergent effects on mitochondrial translation in two high-risk CNVs.

The paper identifies haploinsufficient genes MRPL40 and SLC25A1 in the 22q11.2 locus and shows their genetic interactions contribute to cardiac and brain phenotypes in mice.

This study shows Rab11a-Atg9A interaction regulated by mTOR is necessary for autophagy initiation at dendritic spines in response to NMDA receptor stimulation.

This study shows that LSD1/KDM1A is essential for neural stem cell differentiation in mice, as its deletion causes perinatal lethality and brain defects, but motor neurons can still be generated.

This study uses cross-species scRNA-seq to show that the 3q29 deletion causes mitochondrial dysfunction in both human cortical organoids and mouse models, suggesting a conserved metabolic disruption in schizophrenia.

This study identifies that antisense C4G2 repeat expanded RNAs, but not sense G4C2, activate the PKR/eIF2-dependent integrated stress response in C9orf72 FTD/ALS, leading to neuronal toxicity.

This study shows that KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function by forming aggregates and increasing motor activity.

This study explores caregiver experiences and concerns following a diagnosis of 3q29 deletion syndrome, highlighting gaps in communication about future psychosis risk.

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

This study evaluates 32 individuals with 3q29 deletion syndrome to identify common medical and neurodevelopmental features and provides clinical care recommendations.

This study identifies TBK1 as a tau-interacting kinase that enhances neurodegeneration in tauopathies through increased tau phosphorylation.

This study shows that the 3q29 deletion causes sex-specific metabolic changes in mice, which are not linked to behavioral issues, and that a high-fat diet can improve weight in females without worsening behavior.

This study identifies G-quadruplex sequences as key determinants of FMRP-mediated RNA localization in neurons and shows that FMRP's RGG domain facilitates this process through specific RNA interactions.

This study creates a CRISPR-engineered mouse model of the 3q29 deletion, showing behavioral and growth deficits, and demonstrates that these effects are not solely due to Dlg1 haploinsufficiency.