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  1. Article

    Open Access

    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 and allele-specific expressi...

    Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis… in Nature Communications (2019)

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  2. No Access

    Article

    Dual JAK1 and STAT3 mutations in a breast implant-associated anaplastic large cell lymphoma

    Audrey Letourneau, Marie Maerevoet, Dina Milowich, Roland Dewind… in Virchows Archiv (2018)

  3. No Access

    Article

    Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

    Sergey Nikolaev, Stylianos Antonarakis and colleagues analyze the genetic architecture of 293 basal cell carcinomas (BCCs) and characterize their mutational landscape. They observe UV signature mutations and i...

    **mena Bonilla, Laurent Parmentier, Bryan King, Fedor Bezrukov… in Nature Genetics (2016)

  4. Article

    Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

    Nature 508, 345–350 (2014); doi:10.1038/nature13200 Owing to a labelling error in the input files, one of the two replicate data sets used for Fig. 5d and e and Supplementary Fig. 6d of this Article was incorr...

    Audrey Letourneau, Federico A. Santoni, **mena Bonilla, M. Reza Sailani… in Nature (2016)

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  5. No Access

    Article

    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 the transcript...

    Audrey Letourneau, Federico A. Santoni, **mena Bonilla, M. Reza Sailani… in Nature (2014)