Author
South Australia PathologyORCID 0000-0002-9585-1136Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 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.
Lucas A. Mitchell, Joshua M. Schmidt, Emmanuelle Souzeau…·Owen M. Siggs
The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.
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.
Owen M. Siggs, Emmanuelle Souzeau, Deepa Ajay Taranath…·Jamie E. Craig
The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.