Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

by Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A, Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y, Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A, Talkowski, Michael E, Dollfus, Hélène, Kellis, Manolis, Davis, Erica E, Sunyaev, Shamil R, Katsanis, Nicholas
Published 2021

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

by Kousi, Maria, Söylemez, Onuralp, Ozanturk, Aysegül, Mourtzi, Niki, Akle, Sebastian, Jungreis, Irwin, Muller, Jean, Cassa, Christopher A, Brand, Harrison, Mokry, Jill Anne, Wolf, Maxim Y., Sadeghpour, Azita, McFadden, Kelsey, Lewis, Richard A, Talkowski, Michael E, Dollfus, Hélène, Kellis, Manolis, Davis, Erica E, Sunyaev, Shamil R, Katsanis, Nicholas
Published 2022

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

by Roberson, Elle C., Dowdle, William E., Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R., Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D., Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A., Saunier, Sophie, Otto, Edgar A., Katsanis, Nicholas, Davis, Erica E., Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R., Reiter, Jeremy F.
Published 2015

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

by 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., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Published 2014