| DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome | American journal of human genetics |  | | 2016 | 635 | 215 |
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| 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 | 619 | 293 |
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| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | | 2013 | 751 | 692 |
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| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation |  | | 2012 | 598 | 0 |
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| 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 | 694 | 0 |
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| Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15 | Genome research | | | 2010 | 561 | 0 |
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| 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy | Nature genetics | | | 2009 | 628 | 2 |
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