Joseph D. Dougherty

This study characterizes MYT1L-Related Neurodevelopmental Disorder using data from the Brain Gene Registry, identifying cognitive, behavioral, and clinical features in affected individuals.

In 136 mice on FED3 tasks, males showed slightly higher win-stay in all three choice tasks, with higher accuracy in a deterministic bandit but not a probabilistic one.

The paper demonstrates that antisense oligonucleotides (ASOs) can upregulate gene expression by stabilizing mRNA through targeting destabilizing elements like PREs, with therapeutic implications for haploinsufficiency disorders.

SMURF improves spatial transcriptomic analysis by accurately assigning mRNAs to cells and revealing gene-expression zonation in tissues.

This paper develops inducible Calling Cards in mice to control transposon insertion timing in vivo, showing varying efficacy and developmental impacts based on the transcription factor used.

The paper develops an in vivo MPRA method to identify sequence determinants of mRNA localization in astrocytes and finds diverse regulatory mechanisms are used.

The paper identifies cell-type and disease-specific circadian gene expression changes in glial cells under amyloid pathology or aging in mice.

This study examines the molecular and behavioral effects of MYT1L haploinsufficiency in mice, finding region-specific hypothalamic disruptions and sex-specific behavioral stability.

The paper shows a single binge ethanol exposure rapidly increases apoptosis in early adolescent and adult mice, with Myt1l haploinsufficiency modulating this effect across developmental stages.

This study shows that norepinephrine modulates synapses via astrocytic adrenergic receptors and Ca2+ dynamics, independent of neuronal receptors.

The paper shows that epigenetic variation recorded in mice during development predicts seizure susceptibility, with specific loci linked to human epilepsy genes.

The paper uses single-nucleus RNA-sequencing to link molecular variation in hypothalamic neurons to social motivation behavior in mice, identifying actionable targets for social deficit disorders.

This study investigates how chromosomal and gonadal sex influence social motivation in mice, finding that gonadal sex primarily affects behavior while chromosomal sex interacts with genetic mutations to alter social behavior.

This study examines the effects of Myt1l heterozygous mutation on lifespan and health in mice, finding no significant difference in lifespan or end-of-life histopathology compared to wildtype mice.

This study examines the role of MYT1L in neuronal development by analyzing gene expression in wild-type and MYT1L-deficient mice, finding disruptions in excitatory neuron proportions and gene expression.

This study shows that Astn2 knockout mice display ASD-like behaviors and altered cerebellar circuit properties, including changes in synaptic transmission and glial volume.

The paper examines sex biases in gene expression across brain regions and links them to sex differences in autism and Alzheimer's disease prevalence.

The paper shows that after active whisking starts in mice, layer IV neurons in the barrel cortex temporarily become more excitable, which depends on prior experience.

This study shows that monocular deprivation during the visual critical period reduces visual and homotopic connectivity while increasing internetwork connectivity between visual and parietal cortex in mice.

This study evaluates the role of AQP4 readthrough isoforms in gliovascular functions using a novel mouse model and finds that AQP4x modulates BBB integrity and protein localization.

The paper develops a method to assess the functional effects of non-coding elements in specific cell types in vivo using a Cre-dependent MPRA approach.

The paper screens 5'UTR mutations in neurodevelopmental disorder genes to identify functional variants impacting translation and protein production, finding some mutations affect known syndromic autism genes in neurons.

This study examines how different DNMT3A mutations cause varied behavioral, epigenetic, and transcriptional issues in neurodevelopmental disorders.

Calling Cards records protein-DNA interactions over time using transposons, enabling analysis of historical molecular states through sequencing.

This study shows that tyrosinase-induced neuromelanin accumulation in mouse locus coeruleus neurons causes hyperactivity, transcriptional changes, and degeneration, mimicking early stages of Alzheimer's and Parkinson's disease.

This study examines functional connectivity changes in Mecp2 knockout mice, finding disrupted connectivity in males and subtle changes in females, suggesting sex-specific roles of MeCP2 in circuit development.

This study uses DSP-4 to model early LC-NE system changes in AD and PD, showing axon damage, neuroinflammation, and behavioral changes without LC cell death.

The paper investigates MYT1L's role in suppressing earlier neuronal development programs in the adult mouse brain, showing it regulates gene expression and chromatin structure in cortical neurons.

This paper introduces barcoded self-reporting transposon calling cards to efficiently measure transcription factor binding and gene expression in bulk populations, demonstrating their use in vitro and in vivo.

The paper profiles hippocampal transcriptomes across estrous cycles in mice, identifies estrous-responsive genes, and shows Cnih3 deletion disrupts estrous-specific gene expression patterns.