Candice R. Finnila

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

This study shows that long-read genome sequencing improves diagnostic yield for neurodevelopmental disorders by identifying variants missed by short-read sequencing.

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

Genome sequencing as a first-line diagnostic test for hospitalized newborns

This study evaluates genome sequencing in hospitalized newborns, finding it more effective than standard care in identifying genetic diagnoses, especially in those with specific phenotypes.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

The paper reports secondary findings in parents of children with developmental delay through genomic sequencing, identifying clinically relevant variants in 9% of participants.

Genomic diagnosis for children with intellectual disability and/or developmental delay

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.