Stephan C. Collins

Hippocampal Ring Finger Protein 10-dependent signaling supports cognitive flexibility

This study identifies RNF10-mediated signaling in the dorsal hippocampus as essential for cognitive flexibility by linking NMDAR activation to transcriptional programs that support adaptive behavior.

Lipid transport is necessary for neocortical lamination

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans.

The paper identifies bi-allelic WDR47 variants as a cause of a neurodevelopmental syndrome with corpus callosum dysgenesis and associated neuroanatomical abnormalities.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

The paper presents full-length de novo genome assemblies for 16 inbred mouse strains, identifying strain-specific haplotypes and novel functional loci, including a large unannotated gene with potential developmental roles.