Eleanor G. Seaby

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Expanding the ABCA2-associated neurodevelopmental phenotype

  Human Genetics and Genomics Advances · 2026-06-01

• Diverse Effects of Disease-Associated Mutations on the Heterotrimeric G Protein and Rac Signaling of the Adhesion GPCR BAI2 (ADGRB2) (Abstract ID: 225379)

  Journal of Pharmacology and Experimental Therapeutics · 2026-05-01

• Mutations in the Adhesion GPCR BAI2 Associated with Spastic Paraparesis (Abstract ID: 162332)

  Journal of Pharmacology and Experimental Therapeutics · 2025-03-01

• Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

  Genome Medicine · 2024-10-29 · 7 citations

• Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a neurodevelopmental disorder

  Brain · 2024-10-15 · 4 citations