Karun Kar Singh

The sodium channel SCN2A regulates cortical excitatory and inhibitory neurogenesis

This study shows that SCN2A loss in human forebrain organoids impairs excitatory and inhibitory neurogenesis, leading to developmental imbalances and reversible through Sonic hedgehog inhibition.

Genes/variants for diagnostic testing and pre-clinical research in autism spectrum disorder

The paper curates 222 genes associated with autism spectrum disorder (ASD) using the EAGLE framework, identifying 78 with definitive evidence and highlighting differential expression patterns between ASD and broader neurodevelopmental disorders.

From iPSCs to NPCs to cortical neurons: bioenergetic, neuronal, and calcium signaling phenotypes in bipolar disorder with and without familial mitochondrial disease

This study compares neuronal development and function in bipolar disorder with and without familial mitochondrial disease using iPSC-derived neurons.

Direct control of translational elongation by TAOK2β highlights altered protein synthesis as a fundamental underlying component of autism

The paper identifies TAOK2β as a regulator of translational elongation and shows its disruption leads to increased protein synthesis in an ASD mouse model.

Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons

This study examines how different SCN2A de novo variants affect human neuron development and function using patient-derived iPSCs.

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease relevant pathologies

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

CNTN5-/+ or EHMT2-/+ iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks

The paper models ASD-related variants in iPSC-derived neurons and finds hyperactive neuronal networks in CNTN5-/+ and EHMT2-/+ lines.

Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.