AS
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome | American journal of human genetics |  | 2016 | 631 | 195 | ||
| Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region | PLOS genetics | | 2015 | 616 | 275 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 748 | 618 | ||
| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation |  | 2012 | 595 | 0 | ||
| Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele | Journal of medical genetics | | 2012 | 691 | 0 | ||
| Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 | Genome research | | 2010 | 556 | 0 | ||
| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Nature genetics | | 2009 | 625 | 2 |
