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: PCSK7: S285S; rs2277287
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: PCSK7: S285S; rs2277287
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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: PCSK7: S285S; rs2277287
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
Nature Communications
Ko, Arthur A; Cantor, Rita M RM; Weissglas-Volkov, Daphna D; Nikkola, Elina E; Reddy, Prasad M V Linga PM; Sinsheimer, Janet S JS; Pasaniuc, Bogdan B; Brown, Robert R; Alvarez, Marcus M; Rodriguez, Alejandra A; Rodriguez-Guillen, Rosario R; Bautista, Ivette C IC; Arellano-Campos, Olimpia O; Muñoz-Hernández, Linda L LL; Salomaa, Veikko V; Kaprio, Jaakko J; Jula, Antti A; Jauhiainen, Matti M; Heliövaara, Markku M; Raitakari, Olli O; Lehtimäki, Terho T; Eriksson, Johan G JG; Perola, Markus M; Lohmueller, Kirk E KE; Matikainen, Niina N; Taskinen, Marja-Riitta MR; Rodriguez-Torres, Maribel M; Riba, Laura L; Tusie-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Pajukanta, Päivi P