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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: REP15: E206D; rs12819160
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: REP15: 618A>T; Glu206Asp; rs12819160
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: REP15: 618A>T; E206D; rs12819160
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: REP15: E206D; rs12819160
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: REP15: E206D; rs12819160
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Nature Communications
Bonàs-Guarch, Sílvia S; Guindo-Martínez, Marta M; Miguel-Escalada, Irene I; Grarup, Niels N; Sebastian, David D; Rodriguez-Fos, Elias E; Sánchez, Friman F; Planas-Fèlix, Mercè M; Cortes-Sánchez, Paula P; González, Santi S; Timshel, Pascal P; Pers, Tune H TH; Morgan, Claire C CC; Moran, Ignasi I; Atla, Goutham G; González, Juan R JR; Puiggros, Montserrat M; Martí, Jonathan J; Andersson, Ehm A EA; Díaz, Carlos C; Badia, Rosa M RM; Udler, Miriam M; Leong, Aaron A; Kaur, Varindepal V; Flannick, Jason J; Jørgensen, Torben T; Linneberg, Allan A; Jørgensen, Marit E ME; Witte, Daniel R DR; Christensen, Cramer C; Brandslund, Ivan I; Appel, Emil V EV; Scott, Robert A RA; Luan, Jian'an J; Langenberg, Claudia C; Wareham, Nicholas J NJ; Pedersen, Oluf O; Zorzano, Antonio A; Florez, Jose C JC; Hansen, Torben T; Ferrer, Jorge J; Mercader, Josep Maria JM; Torrents, David D
Publication Date: 2018-01-22
Variant appearance in text: REP15: Glu206Asp; rs12819160
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: REP15: E206D; rs12819160