Jessica H. Hall

p70 ribosomal protein S6 Kinase (p70S6K) as a potential peripheral biomarker for autistic symptoms in 16p11.2 deletion and duplication syndromes

The paper identifies reduced p70S6K levels in PBMCs of individuals with 16p11.2 deletion and duplication syndromes, correlating with autistic symptom severity.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits

The paper examines how gene dosage, polygenic background, and environment influence complex traits like height and BMI using large-scale data from multiple cohorts.

Direct pathway bias and altered striatal neurogenesis in human iPSC models of 16p11.2 CNVs: Evidence from single-cell and functional analyses

The paper uses human iPSC-derived medium spiny neurons to show that 16p11.2 CNVs alter striatal neurogenesis and bias toward direct pathway neurons, linking these changes to neurodevelopmental disorders.

Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs)

This study examines irritability in young people with neurodevelopmental copy number variants (ND-CNVs) and finds it is more common than in controls, independent of psychiatric diagnoses or IQ.