Next-Generation Sequencing in the Clinical Diagnosis of Retinitis Pigmentosa

被引:1
作者
Wojciechowski, Robert [1 ]
机构
[1] Johns Hopkins Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA
关键词
D O I
10.1167/iovs.15-16765
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:2183 / 2183
页数:1
相关论文
共 3 条
[1]   An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge [J].
Brownstein, Catherine A. ;
Beggs, Alan H. ;
Homer, Nils ;
Merriman, Barry ;
Yu, Timothy W. ;
Flannery, Katherine C. ;
DeChene, Elizabeth T. ;
Towne, Meghan C. ;
Savage, Sarah K. ;
Price, Emily N. ;
Holm, Ingrid A. ;
Luquette, Lovelace J. ;
Lyon, Elaine ;
Majzoub, Joseph ;
Neupert, Peter ;
McCallie, David, Jr. ;
Szolovits, Peter ;
Willard, Huntington F. ;
Mendelsohn, Nancy J. ;
Temme, Renee ;
Finkel, Richard S. ;
Yum, Sabrina W. ;
Medne, Livija ;
Sunyaev, Shamil R. ;
Adzhubey, Ivan ;
Cassa, Christopher A. ;
de Bakker, Paul I. W. ;
Duzkale, Hatice ;
Dworzynski, Piotr ;
Fairbrother, William ;
Francioli, Laurent ;
Funke, Birgit H. ;
Giovanni, Monica A. ;
Handsaker, Robert E. ;
Lage, Kasper ;
Lebo, Matthew S. ;
Lek, Monkol ;
Leshchiner, Ignaty ;
MacArthur, Daniel G. ;
McLaughlin, Heather M. ;
Murray, Michael F. ;
Pers, Tune H. ;
Polak, Paz P. ;
Raychaudhuri, Soumya ;
Rehm, Heidi L. ;
Soemedi, Rachel ;
Stitziel, Nathan O. ;
Vestecka, Sara ;
Supper, Jochen ;
Gugenmus, Claudia .
GENOME BIOLOGY, 2014, 15 (03)
[2]   Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients [J].
Jose, Patricia Fernandez-San ;
Corton, Marta ;
Blanco-Kelly, Fiona ;
Avila-Fernandez, Almudena ;
Lopez-Martinez, Miguel Angel ;
Sanchez-Navarro, Iker ;
Sanchez-Alcudia, Rocio ;
Perez-Carro, Raquel ;
Zurita, Olga ;
Sanchez-Bolivar, Noelia ;
Lopez-Molina, Maria Isabel ;
Garcia-Sandoval, Blanca ;
Riveiro-Alvarez, Rosa ;
Ayuso, Carmen .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (04) :2173-2182
[3]   Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing [J].
Yang, Yaping ;
Muzny, Donna M. ;
Xia, Fan ;
Niu, Zhiyv ;
Person, Richard ;
Ding, Yan ;
Ward, Patricia ;
Braxton, Alicia ;
Wang, Min ;
Buhay, Christian ;
Veeraraghavan, Narayanan ;
Hawes, Alicia ;
Chiang, Theodore ;
Leduc, Magalie ;
Beuten, Joke ;
Zhang, Jing ;
He, Weimin ;
Scull, Jennifer ;
Willis, Alecia ;
Landsverk, Megan ;
Craigen, William J. ;
Bekheirnia, Mir Reza ;
Stray-Pedersen, Asbjorg ;
Liu, Pengfei ;
Wen, Shu ;
Alcaraz, Wendy ;
Cui, Hong ;
Walkiewicz, Magdalena ;
Reid, Jeffrey ;
Bainbridge, Matthew ;
Patel, Ankita ;
Boerwinkle, Eric ;
Beaudet, Arthur L. ;
Lupski, James R. ;
Plon, Sharon E. ;
Gibbs, Richard A. ;
Eng, Christine M. .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 312 (18) :1870-1879