| Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia | American journal of human genetics |  | | 2016 | 657 | 462 |
|
| Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma | Human genome meeting 2016 | | | 2016 | 9 | 24 |
|
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma | Nature genetics |  | | 2016 | 886 | 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 | 690 | 358 |
|
| DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins | PloS one | | | 2015 | 667 | 472 |
|
| Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing | PLOS genetics | | | 2015 | 730 | 328 |
|
| Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21 | Stem cells | | | 2015 | 736 | 607 |
|
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | | 2015 | 655 | 0 |
|
| Domains of genome-wide gene expression dysregulation in Down's syndrome | Nature | | | 2014 | 710 | 2 |
|
| Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Genomics data | | | 2014 | 565 | 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 | 755 | 586 |
|
| Investigation of the molecular mechanisms underlying Down syndrome phenotypes | | | | 2013 | 1,050 | 1,464 |
|
| Passive and active DNA methylation and the interplay with genetic variation in gene regulation | eLife | | | 2013 | 780 | 545 |
|
| The nuclear pore regulates GAL1 gene transcription by controlling the localization of the SUMO protease Ulp1 | Molecular cell | | | 2013 | 694 | 1 |
|
| Genomic determinants in the phenotypic variability of Down syndrome | Progress in brain research | | | 2012 | 688 | 0 |
|
| Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB | Human mutation | | | 2012 | 598 | 0 |
|
| Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts | Genome research | | | 2011 | 737 | 365 |
|
