Author
Friedrich-Alexander-Universität Erlangen-NürnbergORCID 0000-0002-0026-5362Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Stuart W. J. Tompson, Patricia S. Graham, Johanna S. Hadler…·Emmanuelle Souzeau
The paper curates 271 MYOC variants in open-angle glaucoma patients using updated ClinGen guidelines, increasing definitive classifications and highlighting the need for functional evidence.
Andrew R. Hamel, Wenjun Yan, John M. Rouhana…·Ayellet V. Segrè
Jibril B Hirbo, Francesca Pasutto, Eric R. Gamazon…·Nancy Jean Cox
This study identifies gene expression changes linked to exfoliation syndrome using TWAS and finds enrichment for inflammatory genes, suggesting inflammation's role in the disease.
Kathryn P. Burdon, Patricia S. Graham, Johanna S. Hadler…·Emmanuelle Souzeau
The paper adapts ACMG/AMP variant curation guidelines for the myocilin gene, leading to changes in variant classification for 38% of tested variants.