Whitley V. Kelley

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.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

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.

Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls

The paper evaluates genomic screening in Alabama, finding 51% of identified variants were false positives, with higher rates in African-Americans due to alternative alleles.

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.