• Publications
  • Influence
Domains of genome-wide gene expression dysregulation in Down’s syndrome
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, we studied theExpand
  • 184
  • 23
  • PDF
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
Basal cell carcinoma (BCC) of the skin is the most common malignant neoplasm in humans. BCC is primarily driven by the Sonic Hedgehog (Hh) pathway. However, its phenotypic variation remainsExpand
  • 196
  • 20
  • PDF
Biased allelic expression in human primary fibroblast single cells.
The study of gene expression in mammalian single cells via genomic technologies now provides the possibility to investigate the patterns of allelic gene expression. We used single-cell RNA sequencingExpand
  • 101
  • 11
Extrachromosomal driver mutations in glioblastoma and low grade glioma
Alteration of the number of copies of Double Minutes (DMs) with oncogenic EGFR mutations in response to tyrosine kinase inhibitors (TKIs) is a novel adaptive mechanism of glioblastoma. Here weExpand
  • 34
  • 4
  • PDF
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.
Genomic imprinting results in parental-specific gene expression. Imprinted genes are involved in the etiology of rare syndromes and have been associated with common diseases such as diabetes andExpand
  • 32
  • 4
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Children with Down syndrome (DS) and acute lymphoblastic leukaemia (ALL) have poorer survival and more relapses than non-DS children with ALL, highlighting an urgent need for deeper mechanisticExpand
  • 46
  • 3
  • PDF
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance
Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene expression. We study gene andExpand
  • 7
  • 2
The effect of genetic variation on promoter usage and enhancer activity
The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits andExpand
  • 22
  • 1
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells
The HSA21 encoded Single-minded 2 (SIM2) transcription factor has key neurological functions and is a good candidate to be involved in the cognitive impairment of Down syndrome. We aimed to exploreExpand
  • 6
  • 1
  • PDF
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts
Significance X-chromosome inactivation (XCI) is a female dosage compensation mechanism where one of the two X chromosomes is randomly silenced. However, some genes on the inactive X chromosome andExpand
  • 27