Ellen J. Hoffman

Convergent and divergent phenotypic impacts of estradiol on neurodevelopmental disorder risk genes

The paper evaluates estradiol's effects on ASD/NDD genes using human neurons and zebrafish, finding both convergent transcriptomic effects and gene-specific cellular and behavioral rescue.

Brain-wide circuitry underlying altered auditory habituation in zebrafish models of autism.

The paper investigates auditory habituation differences in zebrafish autism models, finding unique and shared brain-wide circuit changes across genetic lines.

Whole-brain cellular-resolution functional network properties of seizure susceptibility

This study uses calcium imaging and network analysis in zebrafish to identify cellular-resolution network properties linked to seizure susceptibility and risk prediction.

Stable primary brain cell cultures from zebrafish reveal hyperproliferation of non-neuronal cells from scn1lab mutants

This study develops a long-lived zebrafish primary neuron culture protocol and uses it to show that scn1lab mutants exhibit hyperproliferation of non-neuronal cells.

Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment

This study identifies convergent biological pathways in mature neurons affected by neurodevelopmental disorder risk genes and shows drug candidates can ameliorate behavioral phenotypes.

A simple and effective F0 knockout method for rapid screening of behaviour and other complex phenotypes

This paper introduces a CRISPR-Cas9 method for rapid generation of F0 biallelic knockouts in zebrafish, enabling quick screening of complex phenotypes.

CHD8 regulates the balance between proliferation and differentiation of human iPSCs in neural development

This study shows that CHD8 deficiency in human iPSCs increases cell proliferation and delays neural differentiation, potentially contributing to ASD pathophysiology.

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways

The paper identifies de novo damaging DNA mutations in CMS patients, linking them to risk genes and biological pathways related to motor stereotypies.

De novo damaging coding mutations are strongly associated with obsessive-compulsive disorder and overlap with autism

The paper identifies de novo damaging mutations in OCD and finds overlap with autism genes, suggesting shared genetic risk.