Polona Le Quesne Stabej

The paper benchmarks nanopore sequencing performance and validates a rapid genomics pipeline for clinical use in New Zealand.

This study identifies a recessive PRDM13 mutation causing congenital hypogonadotropic hypogonadism and cerebellar hypoplasia through mouse models and human expression analysis.

Rapid Paediatric Sequencing (RaPS) provides a workflow for rapid whole genome sequencing in critically ill children, achieving a 42% diagnostic rate with results available in as few as four days.