She was involved in identifying the genetic mutations responsible for these 2 diseases and developed tests to aid in the diagnosis of these and approximately 20 other genetic diseases.
Roedd yn rhan o adnabod y cellwyriadau sy’n gyfrifol am y ddau glefyd yma ac fe ddatblygodd brofion i roi cymorth i ddagnosio’r rhain a thuag 20 o glefydau genetig eraill.