Lisa C. Worgan

A patient with Fanconi anemia developed triploid hematopoietic stem cells that lacked the disease phenotype, enabling sustained hematopoiesis through restored DNA repair.

This paper demonstrates that targeted long-read sequencing improves genetic diagnosis of spastic-ataxia disorders by identifying causative variants in 41% of undiagnosed cases using a single assay.

This study investigates the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand, finding a correlation between testing rates and case detection, and highlighting increased susceptibility to HNSCC.