Archives: Publications

The GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study offers genomic newborn screening to babies born in 6 New York City hospitals, expanding the number of conditions screened by traditional newborn screening methods. Of the first 4,000 newborns enrolled, 3.7% had positive screenings. The majority of those would not have been picked up by traditional newborn … Expanded newborn screening using genome sequencing for early actionable conditions

Autosomal recessive variants are well-known causes of rare disorders. This study quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse group of patients.

Analysis of over 29,000 neurodevelopmental disorder parent-offspring trios for de novo protein-truncating variants in the nonsense mediated decay escape regions (PTVesc), resulting in identification of 22 candidate Mendelian genes and 22 known Mendelian genes that were not previously known to have PTVesc-associated disease.

GeneDx is committed to ongoing education and training of genetic counseling students. This article illustrates our approach in helping students achieve professional competencies as they relate to roles in laboratory settings.

This conference report of the 8th International RASopathies symposium highlights global perspectives on clinical care and research.

This collaboration across 19 clinical laboratories compared VUS rates across multi-gene panels and exome and genome sequencing. Exome and genome sequencing were found to have higher diagnostic yields and lower VUS rates than gene panels. The study also confirmed that trio testing reduced the number of VUS reported.

In the largest polymicrogyria cohort published to date, a genetic etiology was identified in 32.7% of families, which is more common than previously documented, and 6 genes were newly linked to polymicrogyria.

International experts in primary mitochondrial diseases established gene-disease relationships for Leigh syndrome spectrum across both nuclear and mitochondrial genomes to allow for accurate variant interpretation and diagnosis.

This work utilized a systems-level, multi-omics approach to elucidate the pathogenesis of cerebral arachnoid cysts. The results implicate epigenomic dysregulation due to de novo variants in genes in pathways that regulate transcription and chromatin modification.

This large study of 404 individuals with CTNNB1 variants provides a more comprehensive understanding of CTNNB1-related phenotypes and confirms that cerebral palsy (CP) is a common feature amongst individuals with CTNNB1 variants.