Amy Y. Pan

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

The paper describes a consultation service for evaluating genomic research findings in a paediatric hospital, highlighting its role in assessing variant pathogenicity and managing clinical implications.

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.