Frances A. Flinter

Impact of intragenic NRXN1 deletions on early cortical development

This study investigates the impact of NRXN1 intronic deletions on early cortical development using hiPSCs, finding altered isoform expression and dendritic morphology.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

Atypical neurogenesis in induced pluripotent stem cell (iPSC) from autistic individuals

This study uses iPSCs from autistic individuals to identify early neurodevelopmental differences during cortical and midbrain differentiation.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

Pathogenicity and selective constraint on variation near splice sites

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.