Jill L. Silverman

Preserved social development but impaired executive function in a Shank3-deficient rat model of Phelan-McDermid syndrome

This study examines Shank3-deficient rats to identify behavioral impairments, finding that executive dysfunction is more pronounced than sensorimotor or social deficits.

Novel Gain of Function Mouse Model of KCNT1-Related Epilepsy

The paper creates a novel mouse model of KCNT1-related epilepsy carrying the G269S variant and demonstrates its phenotypic effects in vitro and in vivo.

A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition

This paper describes a pig model of Angelman syndrome that mirrors early developmental symptoms observed in humans.

Assigning Targetable Pathways to Transdiagnostic Subgroups Across Neurodevelopmental Disorders

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model

The paper evaluates peptidomimetic inhibitors targeting TrkB/PSD-95 signaling in an Angelman Syndrome mouse model, showing improved seizure outcomes and cognition but not motor function.

Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations

This paper investigates functional impairments in Syngap1 mutant mice, identifying translational biomarkers in both in vitro and in vivo neurophysiological data.

Development of an ASO therapy for Angelman syndrome by targeting an evolutionarily conserved region at the start of the UBE3A-AS transcript

This paper describes the development of an antisense oligonucleotide (ASO) therapy targeting the UBE3A-AS transcript to reactivate paternal UBE3A expression in Angelman syndrome models.

Gait as a Quantitative Translational Outcome Measure inAngelman Syndrome

This study uses automated gait analysis in an Angelman Syndrome mouse model to identify quantitative motor impairments, showing their translational relevance for therapeutic development.

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

This study shows that deleting a non-canonical regulatory region of Scn1a in mice leads to reduced Scn1a expression and epileptic symptoms.

Neuroanatomy and Behaviour in Mice with a Haploinsufficiency of AT-Rich Interactive Domain 1B (ARID1B) Throughout Development

This study investigates the effects of Arid1b haploinsufficiency in mice, revealing sex-dependent neuroanatomical and behavioral phenotypes associated with neurodevelopmental disorders.

Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways

This paper investigates the molecular impacts of UBE3A loss in a novel rat model of Angelman syndrome using systems biology approaches, revealing epigenetic network interactions between maternal and paternal transcripts.