EF
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Chromatin three-dimensional interactions mediate genetic effects on gene expression | Science |  | 2019 | 272 | 2 | ||
| Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 | Human molecular genetics online |  | 2018 | 21 | 6 | ||
| The genomic landscape of human cellular circadian variation points to a novel role for the signalosome | eLife | | 2017 | 365 | 203 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 620 | 282 | ||
| Biased allelic expression in human primary fibroblast single cells | American journal of human genetics |  | 2015 | 544 | 0 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 623 | 222 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 615 | 2 | ||
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nature communications | | 2014 | 686 | 168 | ||
| Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nature communications | | 2014 | 591 | 172 | ||
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | Genome research | | 2013 | 666 | 485 | ||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 639 | 430 | ||
| Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications | Stem cell research | | 2013 | 571 | 0 | ||
| Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome | Blood | | 2013 | 583 | 0 | ||
| Landscape of transcription in human cells | Nature | | 2012 | 813 | 679 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 637 | 322 | ||
| DNAI1 mutations explain only 2% of primary ciliary dykinesia | Respiration | | 2008 | 685 | 510 |
