David E. Gray

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.

Long-read genome sequencing for the diagnosis of neurodevelopmental disorders

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

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.

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

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.