Erin K. Flaherty

This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

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.

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

The paper identifies concordant transcriptional signatures of schizophrenia in hiPSC-derived neurons and post mortem brains, suggesting neurons better model genetic risk and recommends increasing cohort size in hiPSC studies.