David A. Sweetser

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

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

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

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

The paper correlates allelic strengths of UBA5 variants in vivo and in vitro, classifying them into mild, intermediate, and severe based on functional assays.

A de novo EZH1 variant p.Ala678Gly is linked to neurodevelopmental delay and shows functional deficits in Drosophila melanogaster.

A pooled electronic consultation program improved access to genetics specialists by triaging 153 requests and providing actionable recommendations in 3.2 days on average.

This study identifies Tle4's role in both the acquisition and maintenance of corticothalamic projection neuron identity through epigenetic regulation of Fezf2 expression.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.