Browsing by Author "Tukiainen, Taru"

Sort by: Order: Results:

  • Cummings, Beryl B.; Marshall, Jame L.; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A. Reghan; Bolduc, Veronique; Waddell, Leigh B.; Sandaradura, Sarah A.; O'Grady, Gina L.; Estrella, Elicia; Reddy, Hemakumar M.; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J.; O'Donnell-Luria, Anne H.; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristi; Joshi, Adam Bournazos; Oates, Emily C.; Ghaoui, Roula; Davis, Mark R.; Laing, Nigel G.; Topf, Ana; Genotype-Tissue Expression (GTEx) Consortium; Kang, Peter B.; Beggs, Alan H.; North, Kathryn N.; Straub, Volker; Dowling, James J.; Muntoni, Francesco; Clarke, Nigel F.; Cooper, Sandra T.; Bönnemann, Carsten G.; Guigó Serra, Roderic (American Association for the Advancement of Science (AAAS), 2017)
    Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is ...
  • 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 ...