Area of research
Molecular Biology · Genetics
Research interest
Research interests include Congenital heart defects research, Genomic variations and chromosomal abnormalities, Congenital Heart Disease Studies, and Coronary Artery Anomalies.
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the<scp>ENIGMA</scp>working groups on<scp>CNVs</scp>
A normative chart for cognitive development in a genetically selected population
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia
Molecular genetics of 22q11.2 deletion syndrome
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study
Critical region within 22q11.2 linked to higher rate of autism spectrum disorder
PEMapper and PECaller provide a simplified approach to whole-genome sequencing
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
22q11.2 deletion syndrome
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS