2020
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.Peer-Reviewed Original ResearchMeSH KeywordsConnectomeDNA HelicasesDNA-Binding ProteinsExomeFemaleHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseHomeodomain ProteinsHumansMaleMi-2 Nucleosome Remodeling and Deacetylase ComplexMutationMutation, MissenseMyeloid-Lymphoid Leukemia ProteinNerve Tissue ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 11Receptor, Notch1ConceptsDe novo variantsNDD genesCardiac patterningDe novo damaging variantsDamaging de novo variantsCHD genesDamaging variantsGenesProtein truncatingGenetic originNovo variantsGene mutationsPatterningRecent studiesDendritic developmentVariantsMutationsNeurogenesisSynaptogenesisBonferroni correction
2018
Reducing Radiation Exposure in Cardiac Catheterizations for Congenital Heart Disease
Patel C, Grossman M, Shabanova V, Asnes J. Reducing Radiation Exposure in Cardiac Catheterizations for Congenital Heart Disease. Pediatric Cardiology 2018, 40: 638-649. PMID: 30542920, DOI: 10.1007/s00246-018-2039-9.Peer-Reviewed Original ResearchConceptsCatheterization labRadiation exposureCardiac catheterizationYale-New Haven Children's HospitalDAP/Patent ductus arteriosusAtrial septal defectCongenital heart diseaseDose area productSystems-based interventionsCardiac catheterization labCongenital cardiac catheterizationTotal air kermaPost-intervention dataRadiation dose reductionAir kermaQuality improvement strategiesDuctus arteriosusTranscatheter pulmonaryChildren's HospitalDA dosesSeptal defectHeart diseaseLow fluoroscopyProcedure type