Valerie Arboleda is a physician-scientist with a primary interest in understanding the genetic architecture of rare, monogenic and common complex disease. She has described novel genes associated with IMAGe Syndrome, KAT6A syndrome and Premature Ovarian Failure. She is a practicing molecular genetic pathologist, actively developing novel clinical diagnostic tests based on sequencing technologies. Her research laboratory studies the functional role of genetic variants, in human-based cell model systems using molecular biology, genomics and computational biology to identify how variants affect molecular and clinical phenotypes. Research interests include rare diseases, functional genomics, chromatin modifiers, and complex traits.



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