Jennifer N. Partlow

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

Pannexin-1 regulates cellular identity and excitability in the developing cortex

This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.

Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification

The paper uses spatial single-cell analysis to uncover molecular and structural development of human fetal cortex, revealing early layer and area specification.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

Somatic mosaicism in amyotrophic lateral sclerosis and frontotemporal dementia identifies focal mutations associated with widespread degeneration

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

Role for the Na+/K+ ATPase α 3 subunit in folding and lamination of the human neocortex

This study identifies ATP1A3 variants in children with polymicrogyria and maps ATP1A3 expression patterns in human neocortex development using single-cell RNA sequencing.