1. Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 2. Frazer C, Kruszka P, Bodamer O, et al. Reduction in Healthcare Resource Utilization for Children with Neurodevelopmental Disorders After Exome and Genome Sequencing: A SAVES-Kids Study, Presented at American College of Medical Geneticists March 2025. 3. GeneDx. Internal data. Data on file 2026.