DR
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) | Human molecular genetics |  | 2015 | 611 | 0 | ||
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | 2014 | 747 | 0 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 707 | 2 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | 2014 | 668 | 0 | ||
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | 2012 | 714 | 1 | ||
| Landscape of transcription in human cells | Nature |  | 2012 | 891 | 830 | ||
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | 2012 | 681 | 3 | ||
| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | 2011 | 675 | 431 | ||
| A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus | PloS one | | 2010 | 862 | 452 | ||
| Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing | PloS one | | 2009 | 877 | 357 | ||
| In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 | PLoS biology | | 2008 | 740 | 431 |
