Valentina Stanley

The paper uses mosaic variant barcodes to analyze clonal dynamics in human forebrain cell types, revealing lineage relationships and clonal spread patterns.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

The paper assesses the transmission of de novo mutations from sperm to blastocysts in couples undergoing IVF and finds predictable but slightly under-transmitted mutations based on sperm mutational abundance.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper analyzes sperm mosaic mutations in healthy males, finding that many are stable over time and pose a lifelong transmission risk to offspring.

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.