Browsing by Author "DePalma, Steven"

Now showing items 1-4 of 4

    • Loss of RNA expression and allele-specific expression associated with congenital heart disease 

      McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G. (Nature Publishing Group, 2016)
      Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, ...

    • NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity 

      Abou Hassan, Ossama K.; Fahed, Akl C.; Batrawi, Manal; Arabi, Mariam; Refaat, Marwan M.; DePalma, Steven R.; Seidman, J. G.; Seidman, Christine E.; Bitar, Fadi F.; Nemer, Georges M. (Nature Publishing Group, 2015)
      NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large ...

    • De novo mutations in histone modifying genes in congenital heart disease 

      Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D.; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; DePalma, Steve; Fakhro, Khalid A.; Glessner, Joseph; Hakonarson, Hakon; Italia, Michael; Kaltman, Jonathan R.; Kaski, Juan; Kim, Richard; Kline, Jennie K.; Lee, Teresa; Leipzig, Jeremy; Lopez, Alexander; Mane, Shrikant M.; Mitchell, Laura E.; Newburger, Jane W.; Parfenov, Michael; Pe'er, Itsik; Porter, George; Roberts, Amy; Sachidanandam, Ravi; Sanders, Stephan J.; Seiden, Howard S.; State, Mathew W.; Subramanian, Sailakshmi; Tikhonova, Irina R.; Wang, Wei; Warburton, Dorothy; White, Peter S.; Williams, Ismee A.; Zhao, Hongyu; Seidman, Jonathan G.; Brueckner, Martina; Chung, Wendy K.; Gelb, Bruce D.; Goldmuntz, Elizabeth; Seidman, Christine E.; Lifton, Richard P. (2013)
      Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome ...

    • Phenotype-Genotype Association Grid: A Convenient Method for Summarizing Multiple Association Analyses 

      Benjamin, Emelia J; Parise, Helen; Vasan, Ramachandran S; Izumo, Seigo; Larson, Martin G; Levy, Daniel; Depalma, Steven Robert; O'Donnell, Christopher Joseph; Hirschhorn, Joel Naom (BioMed Central, 2006)
      Background: High-throughput genotyping generates vast amounts of data for analysis; results can be difficult to summarize succinctly. A single project may involve genotyping many genes with multiple variants per gene and ...