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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics |  | 2016 | 655 | 437 | ||
| Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma | Human genome meeting 2016 | | 2016 | 7 | 12 | ||
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics |  | 2016 | 883 | 8 | ||
| HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells | PloS one | | 2015 | 688 | 345 | ||
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | 2015 | 665 | 466 | ||
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | 2015 | 728 | 314 | ||
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | 2015 | 734 | 587 | ||
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | 2015 | 653 | 0 | ||
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | 2014 | 708 | 2 | ||
| Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Genomics data | | 2014 | 563 | 1 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 753 | 553 | ||
| Investigation of the molecular mechanisms underlying Down syndrome phenotypes | | 2013 | 1,033 | 1,440 | |||
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | 2013 | 778 | 541 | ||
| The nuclear pore regulates GAL1 gene transcription by controlling the localization of the SUMO protease Ulp1 | Molecular cell | | 2013 | 692 | 1 | ||
| Genomic determinants in the phenotypic variability of Down syndrome | Progress in brain research | | 2012 | 686 | 0 | ||
| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation | | 2012 | 596 | 0 | ||
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | 2011 | 735 | 363 |
