John Nicholas Constantino

This study characterizes MYT1L-Related Neurodevelopmental Disorder using data from the Brain Gene Registry, identifying cognitive, behavioral, and clinical features in affected individuals.

This study identifies consistent clinical and neural correlates of sensory over-responsivity (SOR) across diverse child samples, showing associations with autistic traits, anxiety, and specific brain connectivity patterns.

This study examines common and rare variant genetic contributions to autism in African Americans, highlighting differences in genetic effects and polygenic score transferability between European and African ancestries.

The paper identifies a de novo missense variant in KCNC2 in two affected siblings with autism and epilepsy using long-read sequencing, showing its potential clinical relevance.

This paper develops a MYT1L syndrome mouse model that recapitulates human phenotypes, revealing disrupted brain development and neuronal maturation as underlying mechanisms.

This study uses iPSC models to show that a 15q13.3 duplication causes distinct neurodevelopmental and functional anomalies in an affected individual but not their unaffected mother, while both share increased cholinergic activity.

This study models multiplex autism using iPSC-derived neurons from a family with varying ASD liability, identifying morphological, physiological, and transcriptomic changes linked to polygenic susceptibility.