Rebecca Bruns

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey

Case report · Congenital Anomalies · 2024 · First of 9 authors · 1 citations

"Do they REALLY trust us"?: Lessons from a volunteer research registry

Journal of Clinical and Translational Science · 2024 · 1 citations