| 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 | 614 | 0 |
|
| Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders | Clinical genetics | | | 2014 | 751 | 0 |
|
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 2 |
|
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Genome research | | | 2014 | 671 | 0 |
|
| A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas | Cancer research | | | 2012 | 721 | 1 |
|
| Landscape of transcription in human cells | Nature |  | | 2012 | 895 | 875 |
|
| Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma | Nature genetics | | | 2012 | 687 | 3 |
|
| Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences | PloS one | | | 2011 | 680 | 457 |
|
| A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus | PloS one | | | 2010 | 865 | 490 |
|
| Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing | PloS one | | | 2009 | 880 | 366 |
|
| In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 | PLoS biology | | | 2008 | 743 | 466 |
|
