S
Stacy E. Harris
Researcher at Children's Hospital of Philadelphia
Publications - 4
Citations - 335
Stacy E. Harris is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: DiGeorge syndrome & Microdeletion syndrome. The author has an hindex of 4, co-authored 4 publications receiving 312 citations.
Papers
More filters
Journal ArticleDOI
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
Sulagna C. Saitta,Stacy E. Harris,Ann P. Gaeth,Deborah A. Driscoll,Donna M. McDonald-McGinn,Melissa K. Maisenbacher,Jill M. Yersak,Prabir K. Chakraborty,April M. Hacker,Elaine H. Zackai,Terry Ashley,Beverly S. Emanuel +11 more
TL;DR: The data are consistent with significant aberrant interchromosomal exchange events during meiosis I in the proximal region of the affected chromosome 22 as the likely etiology for the deletion.
Journal ArticleDOI
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
Carrie E. Bearden,Abbas F. Jawad,David A. Lynch,Set Sokol,Steven J. Kanes,Donna M. McDonald-McGinn,Sulagna C. Saitta,Stacy E. Harris,Edward Moss,Paul P. Wang,Elaine H. Zackai,Beverly S. Emanuel,Tony J. Simon +12 more
TL;DR: Data from this study are consistent with those of previous studies in normal individuals, suggesting that a functional genetic polymorphism in the 22q11 region may influence prefrontal cognition in individuals with COMT haploinsufficiency.
Journal ArticleDOI
Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome
Carrie E. Bearden,Abbas F. Jawad,David A. Lynch,John R. Monterossso,Set Sokol,Donna M. McDonald-McGinn,Sulagna C. Saitta,Stacy E. Harris,Edward Moss,Paul P. Wang,Elaine H. Zackai,Beverly S. Emanuel,Tony J. Simon +12 more
TL;DR: Results indicated that the Val genotype was associated with significantly greater internalizing and externalizing behavioral symptomatology in children with 22q11.2 deletions, and suggested that a functional genetic polymorphism in the 22q 11 region may influence behavior in individuals with COMT haploinsufficiency.
Journal ArticleDOI
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
Sulagna C. Saitta,Stacy E. Harris,Donna M. McDonald-McGinn,Donna M. McDonald-McGinn,Beverly S. Emanuel,Beverly S. Emanuel,Melissa K. Tonnesen,Elaine H. Zackai,Elaine H. Zackai,Suzanne C. Seitz,Deborah A. Driscoll,Deborah A. Driscoll +11 more
TL;DR: It is concluded that germline mosaicism as the underlying mechanism for affected cousins in these families was unlikely and relatives of affected individuals may benefit from genetic counselling and consider prenatal testing for the 22q11.2 deletion in future pregnancies, despite a low recurrence risk.