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: PTGES: A15A; rs11792431
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: PTGES: A15A; rs11792431
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: PTGES: A15A; rs11792431
CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data.
Plos One
Piazza, Rocco R; Magistroni, Vera V; Pirola, Alessandra A; Redaelli, Sara S; Spinelli, Roberta R; Redaelli, Serena S; Galbiati, Marta M; Valletta, Simona S; Giudici, Giovanni G; Cazzaniga, Giovanni G; Gambacorti-Passerini, Carlo C
Variants of gene for microsomal prostaglandin E2 synthase show association with disease and severe inflammation in rheumatoid arthritis.
European Journal Of Human Genetics : Ejhg
Korotkova, Marina M; Daha, Nina A NA; Seddighzadeh, Maria M; Ding, Bo B; Catrina, Anca I AI; Lindblad, Staffan S; Huizinga, Tom W J TW; Toes, Rene E M RE; Alfredsson, Lars L; Klareskog, Lars L; Jakobsson, Per-Johan PJ; Padyukov, Leonid L