Michael C. Kruer

This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.

The paper shows PANK2 enables CoA synthesis during fatty acid oxidation by overcoming feedback inhibition, supporting its role in metabolic switching.

The paper develops and validates an electronic informed consent platform for trio-based genomic research, showing high participant comprehension and satisfaction.

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

This study shows that altering eIF2α phosphorylation in Drosophila models induces dystonia-like movements with cholinergic and D2-receptor origins and altered neuronal connectivity.

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

The paper describes three patients with AGAP1 deletion variants and uses a Drosophila model to identify endolysosomal trafficking defects and stress response abnormalities linked to neurodevelopmental disorders.

Chronic excitation of striatal cholinergic interneurons in mice induces clinically-relevant dystonic leg adduction variability, supporting their role in dystonia and suggesting therapeutic targets.

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.

The paper creates a normative effective connectivity model of the motor network in children using resting-state fMRI and shows its correlation with motor behavior.

This study shows that loss of Frrs1l in mice causes reduced synaptic AMPA receptor levels, leading to motor, cognitive, and electrographical abnormalities.