E
Edward J. Spence
Researcher at Carolinas Medical Center
Publications - 4
Citations - 209
Edward J. Spence is an academic researcher from Carolinas Medical Center. The author has contributed to research in topics: Neurocognitive & Catechol-O-methyl transferase. The author has an hindex of 4, co-authored 4 publications receiving 197 citations.
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Journal ArticleDOI
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Jill A. Rosenfeld,Blake C. Ballif,Ann Lucas,Edward J. Spence,Cynthia M. Powell,Arthur S. Aylsworth,B. Torchia,Lisa G. Shaffer +7 more
TL;DR: The results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.
Journal ArticleDOI
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Cinthya J. Zepeda-Mendoza,Cinthya J. Zepeda-Mendoza,Jonas Ibn-Salem,Tammy Kammin,David J. Harris,David J. Harris,Debra Rita,Karen W. Gripp,Jennifer MacKenzie,Andrea L. Gropman,Brett H. Graham,Ranad Shaheen,Fowzan S. Alkuraya,Campbell K. Brasington,Edward J. Spence,Diane Masser-Frye,Lynne M. Bird,Lynne M. Bird,Erica Spiegel,Rebecca Sparkes,Zehra Ordulu,Michael E. Talkowski,Miguel A. Andrade-Navarro,Peter N. Robinson,Cynthia C. Morton +24 more
TL;DR: High-resolution three-dimensional chromosomal structural data and transcriptional regulatory information are used to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities and found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly associated with the subjects' phenotypes.
Journal ArticleDOI
Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome
Vandana Shashi,Vandana Shashi,Thomas R. Kwapil,Jessica Kaczorowski,Margaret N. Berry,Cesar S. Santos,Timothy D. Howard,Dhruman D. Goradia,Konasale M. Prasad,Diwadkar Vaibhav,Rajaprabhakaran Rajarethinam,Edward J. Spence,Matcheri S. Keshavan,Matcheri S. Keshavan +13 more
TL;DR: Children with 22q11DS demonstrate gray matter reductions in multiple brain regions thought to be relevant to schizophrenia, and the correlation of these volumetric reductions with poor neurocognition indicates that these brain regions may mediate higher neurocognitive functions implicated in schizophrenia.
Journal ArticleDOI
COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome
Vandana Shashi,Vandana Shashi,Timothy D. Howard,Matcheri S. Keshavan,Jessica Kaczorowski,Margaret N. Berry,Kelly Schoch,Edward J. Spence,Thomas R. Kwapil +8 more
TL;DR: The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS.