Author
QIMR Berghofer Medical Research Institute
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
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.
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle
The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.
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.