| Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science |  | | 2019 | 368 | 2 |
|
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics |  | | 2018 | 85 | 174 |
|
| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife |  | | 2017 | 450 | 259 |
|
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one |  | | 2015 | 697 | 366 |
|
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | | 2015 | 618 | 0 |
|
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics |  | | 2015 | 737 | 348 |
|
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature |  | | 2014 | 718 | 2 |
|
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications |  | | 2014 | 781 | 297 |
|
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications |  | | 2014 | 657 | 244 |
|
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research |  | | 2013 | 758 | 741 |
|
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife |  | | 2013 | 786 | 553 |
|
| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research |  | | 2013 | 674 | 0 |
|
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood |  | | 2013 | 688 | 0 |
|
| Landscape of transcription in human cells | Nature |  | | 2012 | 901 | 889 |
|
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research |  | | 2011 | 743 | 369 |
|
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration |  | | 2008 | 842 | 510 |
|