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
Publication Date: 2022-10-14
Variant appearance in text: CD6: T189T; rs61899223
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: CD6: T189T; rs61899223
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: CD6: T189T; rs61899223
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing.
Human Molecular Genetics
Heap, Graham A GA; Yang, Jennie H M JH; Downes, Kate K; Healy, Barry C BC; Hunt, Karen A KA; Bockett, Nicholas N; Franke, Lude L; Dubois, Patrick C PC; Mein, Charles A CA; Dobson, Richard J RJ; Albert, Thomas J TJ; Rodesch, Matthew J MJ; Clayton, David G DG; Todd, John A JA; van Heel, David A DA; Plagnol, Vincent V