Tom Maniatis

Enhancer Dynamics and Spatial Organization Drive Anatomically Restricted Cellular States in the Human Spinal Cord

This study examines enhancer dynamics and spatial organization in the human spinal cord to understand cellular state transitions and identity.

γ-Protocadherins control synapse formation and peripheral branching of touch sensory neurons

This study shows that γ-protocadherin isoforms are critical for synapse formation and peripheral branching in touch sensory neurons, and their loss disrupts corticospinal synapses.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

Complex Intracellular Mechanisms of TBK1 Kinase Activation Revealed by a Specific Small Molecule Inhibitor

This study identifies upstream kinases and spatial mechanisms involved in TBK1 activation using a specific inhibitor, revealing crosstalk with IKKβ and IKKε.

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

Clustered γ-Protocadherins Regulate Cortical Interneuron Programmed Cell Death.

This study identifies Pcdh-γ cluster genes as critical regulators of programmed cell death in cortical interneurons through cell-autonomous and non-cell autonomous mechanisms.

Regional collapsing of rare variation implicates specific genic regions in ALS

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

Antisense lncRNA transcription drives stochastic Protocadherin α promoter choice

The paper shows antisense lncRNA transcription is required for stochastic Protocadherin promoter choice in neurons.

Cell type-specific CLIP reveals that NOVA regulates cytoskeleton interactions in motoneurons

The paper develops a method to study cell-type specific RNA regulation in motoneurons and finds NOVA regulates cytoskeleton interactions by promoting a specific isoform of Septin 8.