This core will provide the cell culture, DNA isolation and mapping support for the projects and cores in this SCOR. The routine activities of this core will include the following. The core will establish lymphoblastoid cell lines from patients with congenital heart defects; isolate DNA from established cell lines, blood spots or cheek swabs; pre-screen patients with conotruncal anomalies for a 22q11.2 deletion by PCR; FISH verify 22q11.2 deletions in at-risk patients until a quantitative PCR assay is developed by Project 1; assess biparental inheritance status by PCR; map newly identified human cDNAs to their respective chromosome by PCR or Southern hybridization analysis of a panel of somatic cell hybrid DNAs; regionally localize new human cDNAs by FISH; map newly identified mouse cDNAs to their respective mouse chromosome by utilization of the Jackson Laboratory Backcross DNA Mapping Resource; and provide access to large genomic fragments of DNA from the CEPH YAC library utilizing published YAC maps and BAC/PAC clones from on-site resources.
| Li, You; Yagi, Hisato; Onuoha, Ezenwa Obi et al. (2016) DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. PLoS Genet 12:e1005821 |
| John, Anitha S; Rychik, Jack; Khan, Munziba et al. (2014) 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot. Cardiol Young 24:303-10 |
| D'Alessandro, Lisa C A; Werner, Petra; Xie, Hongbo M et al. (2014) The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis 9:83-6 |
| D'Alessandro, Lisa C A; Latney, Brande C; Paluru, Prasuna C et al. (2013) The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A 161A:792-802 |
| Peyvandi, Shabnam; Lupo, Philip J; Garbarini, Jennifer et al. (2013) 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol 34:1687-94 |
| Penton, Andrea L; Leonard, Laura D; Spinner, Nancy B (2012) Notch signaling in human development and disease. Semin Cell Dev Biol 23:450-7 |
| Bauer, Robert C; Laney, Ayanna O; Smith, Rosemarie et al. (2010) Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat 31:594-601 |
| Goldmuntz, Elizabeth; Driscoll, Deborah A; Emanuel, Beverly S et al. (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85:125-9 |
| Tomita-Mitchell, A; Maslen, C L; Morris, C D et al. (2007) GATA4 sequence variants in patients with congenital heart disease. J Med Genet 44:779-83 |
| Loomes, Kathleen M; Russo, Pierre; Ryan, Matthew et al. (2007) Bile duct proliferation in liver-specific Jag1 conditional knockout mice: effects of gene dosage. Hepatology 45:323-30 |
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