Carol J. Nelson-Williams

The paper identifies genetic mutations in 329 patients with suspected renal electrolyte disorders, finding known/likely disease-causing variants in 295 probands and highlighting non-coding variants and novel mitochondrial mutations.

This study identifies SMARCC1 mutations as a cause of congenital hydrocephalus, showing they lead to neural progenitor dysfunction and a new syndrome called SaDDS.

This study shows PTEN mutations cause ventriculomegaly and cortical network dysfunction through neural precursor and interneuron dysregulation, with mTORC1 inhibition offering therapeutic potential.

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.