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: PKD1: L2481L; rs2003782
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Scientific Reports
Ali, Hamad H; Al-Mulla, Fahd F; Hussain, Naser N; Naim, Medhat M; Asbeutah, Akram M AM; AlSahow, Ali A; Abu-Farha, Mohamed M; Abubaker, Jehad J; Al Madhoun, Ashraf A; Ahmad, Sajjad S; Harris, Peter C PC
Publication Date: 2019-03-11
Variant appearance in text: PKD1: 7441C>T; rs2003782
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Human Mutation
Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY
Publication Date: 2017-07
Variant appearance in text: PKD1: 7441C>T; rs2003782
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
The Journal Of Molecular Diagnostics : Jmd
Tan, Adrian Y AY; Michaeel, Alber A; Liu, Genyan G; Elemento, Olivier O; Blumenfeld, Jon J; Donahue, Stephanie S; Parker, Tom T; Levine, Daniel D; Rennert, Hanna H