genetic factors relating to birth defects, syndromes relating to chromosomal translocation, and 22q gene deletion.

Awards and honours

* 1991 - Fellow, College of Physicians of Philadelphia
* 2002 - Blockley-Osler Award
* 2003 - Letitia and Alice Scott Endowed Chair in Genetics and Molecular Biology
* 2007 - Master Clinician Award, Children's Hospital of Philadelphia

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