Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: CFAP45: E291G; rs16842789
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: CCDC19: E291G; rs16842789
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: CCDC19: E291G; rs16842789
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
Nature Genetics
Bailey, Jessica N Cooke JN; Loomis, Stephanie J SJ; Kang, Jae H JH; Allingham, R Rand RR; Gharahkhani, Puya P; Khor, Chiea Chuen CC; Burdon, Kathryn P KP; Aschard, Hugues H; Chasman, Daniel I DI; Igo, Robert P RP; Hysi, Pirro G PG; Glastonbury, Craig A CA; Ashley-Koch, Allison A; Brilliant, Murray M; Brown, Andrew A AA; Budenz, Donald L DL; Buil, Alfonso A; Cheng, Ching-Yu CY; Choi, Hyon H; Christen, William G WG; Curhan, Gary G; De Vivo, Immaculata I; Fingert, John H JH; Foster, Paul J PJ; Fuchs, Charles C; Gaasterland, Douglas D; Gaasterland, Terry T; Hewitt, Alex W AW; Hu, Frank F; Hunter, David J DJ; Khawaja, Anthony P AP; Lee, Richard K RK; Li, Zheng Z; Lichter, Paul R PR; Mackey, David A DA; McGuffin, Peter P; Mitchell, Paul P; Moroi, Sayoko E SE; Perera, Shamira A SA; Pepper, Keating W KW; Qi, Qibin Q; Realini, Tony T; Richards, Julia E JE; Ridker, Paul M PM; Rimm, Eric E; Ritch, Robert R; Ritchie, Marylyn M; Schuman, Joel S JS; Scott, William K WK; Singh, Kuldev K; Sit, Arthur J AJ; Song, Yeunjoo E YE; Tamimi, Rulla M RM; Topouzis, Fotis F; Viswanathan, Ananth C AC; Verma, Shefali Setia SS; Vollrath, Douglas D; Wang, Jie Jin JJ; Weisschuh, Nicole N; Wissinger, Bernd B; Wollstein, Gadi G; Wong, Tien Y TY; Yaspan, Brian L BL; Zack, Donald J DJ; Zhang, Kang K; Study, Epic-Norfolk Eye EN; , ; Weinreb, Robert N RN; Pericak-Vance, Margaret A MA; Small, Kerrin K; Hammond, Christopher J CJ; Aung, Tin T; Liu, Yutao Y; Vithana, Eranga N EN; MacGregor, Stuart S; Craig, Jamie E JE; Kraft, Peter P; Howell, Gareth G; Hauser, Michael A MA; Pasquale, Louis R LR; Haines, Jonathan L JL; Wiggs, Janey L JL
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CCDC19: E291G; rs16842789