The need for the expansion of genomic services has been at a record time high in the past
decade. As technological advancement continues to strengthen the entire genetic and …

Underrepresentation in clinical genomics research limits the generalizability of findings and
the benefits of scientific discoveries. We describe the impact of patient-centered, data-driven …

Abstract Purpose Neurodevelopmental disorders (NDDs) often result from rare genetic
variation, but genomic testing yield for NDDs remains below 50%, suggesting that clinically …

The increased use of next‐generation sequencing has expanded our understanding of the
involvement and prevalence of mosaicism in genetic disorders. We describe a total of …

Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses.
While clinical exome and genome sequencing represent an effective tool for many RD …

Copy number variations (CNVs) play a significant role in human disease. While
chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of …

Purpose Limited evidence evaluates parents' perceptions of their child's clinical genomic
sequencing (GS) results, particularly among individuals from medically underserved groups …

There is increasing evidence of the clinical utility of genetic and genomic testing (GT);
however, factors influencing personal utility of GT, especially in diverse, multilingual …

Purpose To examine associations between Pediatric Quality of Life Inventory (PedsQL) 4.0
Generic Core Scales and PedsQL Infant Scales with formal health care resource utilization …

Purpose To better understand the effects of returning diagnostic sequencing results on
clinical actions and economic outcomes for pediatric patients with suspected genetic …