Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
1P01HD052860-01
Application #
7121456
Study Section
Pediatrics Subcommittee (CHHD)
Project Start
2006-05-01
Project End
2011-02-28
Budget Start
2006-05-01
Budget End
2007-02-28
Support Year
1
Fiscal Year
2006
Total Cost
$194,642
Indirect Cost

  Institution

Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104

  Publications

Mills, Jason A; Herrera, Pamela S; Kaur, Maninder et al. (2018) NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Sci Rep 8:1056
Newkirk, Daniel A; Chen, Yen-Yun; Chien, Richard et al. (2017) The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. Clin Epigenetics 9:89
Muto, Akihiko; Schilling, Thomas F (2017) Zebrafish as a Model to Study Cohesin and Cohesinopathies. Methods Mol Biol 1515:177-196
Kline, Antonie D; Krantz, Ian D; Deardorff, Matthew A et al. (2017) Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. Am J Med Genet A 173:1172-1185
Kawauchi, Shimako; Santos, Rosaysela; Muto, Akihiko et al. (2016) Using mouse and zebrafish models to understand the etiology of developmental defects in Cornelia de Lange Syndrome. Am J Med Genet C Semin Med Genet 172:138-45
Kaur, Maninder; Mehta, Devanshi; Noon, Sarah E et al. (2016) NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Am J Med Genet C Semin Med Genet 172:163-70
Mehta, Devanshi; Vergano, Samantha A Schrier; Deardorff, Matthew et al. (2016) Characterization of limb differences in children with Cornelia de Lange Syndrome. Am J Med Genet C Semin Med Genet 172:155-62
Santos, Rosaysela; Kawauchi, Shimako; Jacobs, Russell E et al. (2016) Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects. PLoS Biol 14:e2000197
Dorsett, Dale (2016) The Drosophila melanogaster model for Cornelia de Lange syndrome: Implications for etiology and therapeutics. Am J Med Genet C Semin Med Genet 172:129-37
Lopez-Burks, Martha E; Santos, Rosaysela; Kawauchi, Shimako et al. (2016) Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet 172:146-54

Showing the most recent 10 out of 72 publications