Roger E. Stevenson

The contribution of de novo coding mutations to meningomyelocele

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts

This study demonstrates that optical genome mapping (OGM) achieves high concordance with standard-of-care testing and identifies additional reportable variants in neurodevelopmental disorder cohorts.

Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing

The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.

Multi-site Technical Performance and Concordance of Optical Genome Mapping: Constitutional Postnatal Study for SV, CNV, and Repeat Array Analysis

This study evaluates the performance and reproducibility of optical genome mapping (OGM) across multiple sites for detecting structural variations and copy number variations in constitutional disorders, showing high concordance with standard of care methods.

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.