EF
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science |  | 2019 | 319 | 2 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online |  | 2018 | 54 | 37 | ||
| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | | 2017 | 413 | 219 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 658 | 294 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | 2015 | 592 | 0 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 675 | 236 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 664 | 2 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 731 | 201 | ||
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | 2014 | 626 | 186 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 714 | 518 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 737 | 473 | ||
| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | | 2013 | 614 | 0 | ||
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | 2013 | 649 | 0 | ||
| Landscape of transcription in human cells | Nature | | 2012 | 851 | 715 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 708 | 336 | ||
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration | | 2008 | 797 | 510 |
