Halie J. May

Clinical actionability of genetic findings in cerebral palsy

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

Incorporating Genetics Services into Adult Kidney Disease Care

This paper describes the establishment of a Kidney Genetics Clinic to improve access to genetic services for adults with kidney disease, reporting a 42.38% yield of clinically relevant genetic findings.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.