The aim of the Core is to provide support and enhance the progress, productivity, cost-effectiveness, and outcome of the three research projects. The research projects focus on human and mouse genetic approaches to uncover genes for non-syndromic conotruncal heart defects (CTDs). All of the projects will utilize the Core, as it will have a fundamental role in administrating the Program. The Core will also help in human subject recruitment. It will recruit new 22q11 DS subjects and their parents for expanding the CNV landscape and to provide a replication of the GWAS, as proposed in Project 1. In addition, investigators in the Core, will oversee evolving clinical phenotyping. Specifically, Project 3 depends on an up to date understanding of the 22q11 DS phenotype and how it relates to non-syndromic malformations. The """"""""phenotyping center"""""""" for which the Core in part serves, will provide essential intellectual guidance in areas of clinical human genetics. Finally, the core will make decisions as to which research site will carry out genomic assays including Affymetrix 6.0 arrays (Project 1), genotyping (Projects 1 and 2), sequence capture and next generation sequencing (NGS;Projects 1 and 2). The Core will negotiate best pricing and services when they are needed. The core will also organize travel for the Pi's for semimonthly meetings and travel to the NICHD Structural Birth Defects meeting in Washington DC.
Relevance: The program to discover genes for cardiac outflow development and disease will help to develop future therapeutics for treatment. The goal of the core is to help recruit human subjects with the 22q11.2 deletion and to support Projects 1, 2 and 3 administratively.
|Werner, Petra; Latney, Brande; Deardorff, Matthew A et al. (2016) MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat 37:308-14|
|Mlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne et al. (2016) Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet 135:273-85|
|Hestand, Matthew S; Nowakowska, Beata A; Vergaelen, Elfi et al. (2016) A catalog of hemizygous variation in 127 22q11 deletion patients. Hum Genome Var 3:15065|
|Guo, Tingwei; Chung, Jonathan H; Wang, Tao et al. (2015) Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. Am J Hum Genet 97:869-77|
|Mlynarski, Elisabeth E; Sheridan, Molly B; Xie, Michael et al. (2015) Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet 96:753-64|
|McDonald-McGinn, Donna M; Sullivan, Kathleen E; Marino, Bruno et al. (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers 1:15071|
|Chung, Jonathan H; Cai, Jinlu; Suskin, Barrie G et al. (2015) Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations. Hum Mutat 36:797-807|
|Racedo, Silvia E; McDonald-McGinn, Donna M; Chung, Jonathan H et al. (2015) Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 96:235-44|
|Vorstman, Jacob A S; Breetvelt, Elemi J; Duijff, Sasja N et al. (2015) Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 72:377-85|
|Ramakrishnan, Anushuya; Lee, Laura J; Mitchell, Laura E et al. (2015) Maternal Hypertension During Pregnancy and the Risk of Congenital Heart Defects in Offspring: A Systematic Review and Meta-analysis. Pediatr Cardiol 36:1442-51|
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