Now showing items 1-1 of 1

    • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies 

      Gee, Heon Yung; Otto, Edgar A.; Hurd, Toby W.; Ashraf, Shazia; Chaki, Moumita; Cluckey, Andrew; Vega-Warner, Virginia; Saisawat, Pawaree; Diaz, Katrina A.; Fang, Humphrey; Kohl, Stefan; Allen, Susan J.; Airik, Rannar; Zhou, Weibin; Ramaswami, Gokul; Janssen, Sabine; Fu, Clementine; Innis, Jamie L.; Weber, Stefanie; Vester, Udo; Davis, Erica E.; Katsanis, Nicholas; Fathy, Hanan M.; Jeck, Nikola; Klaus, Gunther; Nayir, Ahmet; Rahim, Khawla A.; Al Attrach, Ibrahim; Al Hassoun, Ibrahim; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'Toole, John F.; Attanasio, Massimo; Lewis, Richard A.; Nuernberg, Gudrun; Nuernberg, Peter; Washburn, Joseph; MacDonald, James; Innis, Jeffrey W.; Levy, Shawn; Hildebrandt, Friedhelm (2014-04-01)
      Rare single-gene disorders cause chronic disease. However, half of the 6000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, ...