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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