Browsing by Author "MacArthur, Daniel G."

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  • Lek, Monkol; Elosua Llanos, Roberto; MacArthur, Daniel G.; Exome Aggregation Consortium (Macmillan Publishers, 2016)
    Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding ...
  • Tukiainen, Taru; Guigó Serra, Roderic; MacArthur, Daniel G.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to ...
  • Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven, 1973-; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G.; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita (Springer, 2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...

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