A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
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
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Molecular Genetics & Genomic Medicine
Suter, Aude-Annick AA; Itin, Peter P; Heinimann, Karl K; Ahmed, Munaza M; Ashraf, Tazeen T; Fryssira, Helen H; Kini, Usha U; Lapunzina, Pablo P; Miny, Peter P; Sommerlund, Mette M; Suri, Mohnish M; Vaeth, Signe S; Vasudevan, Pradeep P; Gallati, Sabina S
Publication Date: 2016-05
Variant appearance in text: RECQL4: 1258+18G>A; rs4251689