Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
American Journal Of Human Genetics
Lindstrand, Anna A; Davis, Erica E EE; Carvalho, Claudia M B CM; Pehlivan, Davut D; Willer, Jason R JR; Tsai, I-Chun IC; Ramanathan, Subhadra S; Zuppan, Craig C; Sabo, Aniko A; Muzny, Donna D; Gibbs, Richard R; Liu, Pengfei P; Lewis, Richard A RA; Banin, Eyal E; Lupski, James R JR; Clark, Robin R; Katsanis, Nicholas N
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney International
Gee, Heon Yung HY; Otto, Edgar A EA; Hurd, Toby W TW; Ashraf, Shazia S; Chaki, Moumita M; Cluckey, Andrew A; Vega-Warner, Virginia V; Saisawat, Pawaree P; Diaz, Katrina A KA; Fang, Humphrey H; Kohl, Stefan S; Allen, Susan J SJ; Airik, Rannar R; Zhou, Weibin W; Ramaswami, Gokul G; Janssen, Sabine S; Fu, Clementine C; Innis, Jamie L JL; Weber, Stefanie S; Vester, Udo U; Davis, Erica E EE; Katsanis, Nicholas N; Fathy, Hanan M HM; Jeck, Nikola N; Klaus, Gunther G; Nayir, Ahmet A; Rahim, Khawla A KA; Al Attrach, Ibrahim I; Al Hassoun, Ibrahim I; Ozturk, Savas S; Drozdz, Dorota D; Helmchen, Udo U; O'Toole, John F JF; Attanasio, Massimo M; Lewis, Richard A RA; Nürnberg, Gudrun G; Nürnberg, Peter P; Washburn, Joseph J; MacDonald, James J; Innis, Jeffrey W JW; Levy, Shawn S; Hildebrandt, Friedhelm F