Author
University of Wisconsin–MadisonORCID 0000-0001-6994-9941Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Asma M. Aman, Eslam Zaher, Santiago Díaz‐Torres…·Puya Gharahkhani
The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.
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.
Asma M. Aman, Santiago Díaz‐Torres, Samantha Sze‐Yee Lee…·Puya Gharahkhani
This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.
Andrew R. Hamel, Wenjun Yan, John M. Rouhana…·Ayellet V. Segrè
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.