César P. Canales

Precocious maturation and Purkinje cell dysfunction in the mouse Chd8 haploinsufficient cerebellum

This study examines the effects of Chd8 haploinsufficiency on cerebellar development and function in mice, revealing cell-type-specific transcriptomic and physiological changes.

Complementary vertebrate Wac models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

The paper develops murine and zebrafish Wac deletion models to study DeSanto-Shinawi Syndrome, finding craniofacial, behavioral, and neurodevelopmental phenotypes similar to the human condition.

Chd8 haploinsufficiency leads to molecular layer heterotopias and age-dependent cortical expansion

This study identifies molecular layer heterotopias and age-dependent cortical expansion in Chd8 haploinsufficient mice, linking them to neuronal migration defects and autism-related brain overgrowth.

Molecular interactions of Chd8 in mouse brain highlights a role in chromatin-associated RNA processing

The paper identifies CHD8 interactions in mouse brain, revealing a role in chromatin-associated RNA processing and highlighting dosage sensitivity in neurodevelopmental disorders.

Persistent cortical excitatory neuron dysregulation in adult Chd8 haploinsufficient mice.

This study identifies persistent excitatory neuron dysfunction in Chd8 haploinsufficient mice through single nucleus transcriptomics and behavioral analysis.

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.

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.

Parallel functional testing identifies enhancers active in early postnatal mouse brain

The paper identifies and validates enhancers active in early postnatal mouse brain using a modified MPRA approach and rAAV delivery.

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.

Increased cortical volume without increased neuron number in heterozygous Chd8 mutant mouse cortex

The paper investigates whether increased cortical volume in Chd8 mutant mice is due to increased neuron number or soma size, finding no increase in neuron number but increased volume.

A temporal map of maternal immune activation-induced changes reveals a shift in neurodevelopmental timing and perturbed cortical development in mice.

This study identifies transcriptomic and neuroanatomical changes in mouse embryos exposed to maternal immune activation, revealing altered neurodevelopmental timing and cortical development.

CRL5-dependent regulation of Arl4c and Arf6 controls hippocampal morphogenesis.

This study identifies CRL5 as a regulator of hippocampal development by controlling Arl4c and Arf6, which are essential for pyramidal neuron migration and dendritogenesis.