Kevin M. Bowling

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

The paper surveys Variant Scientists in clinical genomics labs, finding they are predominantly female, highly educated, and involved in diverse tasks with adequate employer support but lacking professional recognition.

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.

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.

This paper uses long-read genome sequencing to identify pathogenic variants in neurodevelopmental disorders, finding clinically relevant structural variants in two of six probands.

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.

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

The paper compares transcriptomes and metabolomes of postmortem brain samples from schizophrenia, bipolar disorder, major depressive disorder, and controls to identify molecular differences and potential therapeutic targets.

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