Ellen F. Macnamara

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.