Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
7R01HD043569-03
Application #
6945381
Study Section
Special Emphasis Panel (ZRG1-GEN (02))
Program Officer
Oster-Granite, Mary Lou
Project Start
2003-01-03
Project End
2007-12-31
Budget Start
2004-06-01
Budget End
2004-12-31
Support Year
3
Fiscal Year
2004
Total Cost
$317,050
Indirect Cost
Name
University of Washington
Department
Genetics
Type
Schools of Medicine
DUNS #
605799469
City
Seattle
State
WA
Country
United States
Zip Code
98195
Girirajan, Santhosh; Eichler, Evan E (2010) Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-87
de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo et al. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:23-32
Mefford, Heather C; Muhle, Hiltrud; Ostertag, Philipp et al. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962
Mefford, Heather C; Shafer, Neil; Antonacci, Francesca et al. (2010) Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A 152A:2203-10
Hannes, F D; Sharp, A J; Mefford, H C et al. (2009) Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46:223-32
Itsara, Andy; Cooper, Gregory M; Baker, Carl et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148-61
Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41:160-2
Mefford, Heather C; Eichler, Evan E (2009) Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 19:196-204
Mefford, Heather C; Cooper, Gregory M; Zerr, Troy et al. (2009) A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 19:1579-85
Sharp, Andrew J; Mefford, Heather C; Li, Kelly et al. (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40:322-8

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