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Showing 1–6 of 6 results
Advanced filters: Author: Emilie Falconnet Clear advanced filters

  • For children with acute lymphoblastic leukaemia (ALL), those with Down syndrome (DS) have decreased survival compared with children without DS. Here, the authors use exome sequencing to characterise the mutational landscape of patients with both ALL and DS and highlight genes related to survival and relapse.

    • Sergey I. Nikolaev
    • Marco Garieri
    • Stylianos E. Antonarakis
    Research
    Nature Communications
    Volume: 5, P: 1-6

  • A description is given of the ENCODE effort to provide a complete catalogue of primary and processed RNAs found either in specific subcellular compartments or throughout the cell, revealing that three-quarters of the human genome can be transcribed, and providing a wealth of information on the range and levels of expression, localization, processing fates and modifications of known and previously unannotated RNAs.

    • Sarah Djebali
    • Carrie A. Davis
    • Thomas R. Gingeras
    ResearchOpen Access
    Nature
    Volume: 489, P: 101-108

  • Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.

    • Georgios Stamoulis
    • Marco Garieri
    • Stylianos E. Antonarakis
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-11

  • Human cancers are characterised by increased levels of genomic instability. Here, the authors show that a new class of mutation that occurs in glioblastoma, double minutes, may facilitate tumour drug resistance by acquiring gain-of-function extrachromosomal mutations, mediated by focal amplifications.

    • Sergey Nikolaev
    • Federico Santoni
    • Stylianos E. Antonarakis
    Research
    Nature Communications
    Volume: 5, P: 1-7

  • By studying the transcriptome of fetal cells of monozygotic twins discordant for trisomy 21, this paper finds that differential expression between the twins is organized in domains along all chromosomes; these gene expression dysregulation domains are conserved in the mouse model of Down’s syndrome and correlate with the lamina-associated domains and replication domains.

    • Audrey Letourneau
    • Federico A. Santoni
    • Stylianos E. Antonarakis
    Research
    Nature
    Volume: 508, P: 345-350