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Archives: Publications

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

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.

Shifts in the genetic counseling workforce highlight a need for laboratory fieldwork experience for genetic counseling trainees

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.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

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

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

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.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

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.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

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.

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

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.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

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.

Discovery of over 200 new and expanded genetic conditions using GeneMatcher

GeneDx’s experience with GeneMatcher highlights our commitment to data sharing, collaborating with our ordering clinicians, and our commitment to helping patients and their families. As a result of GeneMatcher utilization, GeneDx has been involved in the publication of over 200 articles involving novel disease-gene relationships and expanded phenotypes for known disease-causing genes.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Among patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients.