Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

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Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC by Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn

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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. by Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink

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Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology by Irina A. Kerle, Thomas Gross, Anja Kögler, Jonas S. Arnold, Maximilian Werner, Jan-Niklas Eckardt, Elena E. Möhrmann, Marie Arlt, Barbara Hutter, Jennifer Hüllein, Daniela Richter, Martin M. K. Schneider, Mario Hlevnjak, Lino Möhrmann, Dorothea Hanf, Christoph E. Heilig, Simon Kreutzfeldt, Maria-Veronica Teleanu, Evelin Schröck, Daniel Hübschmann, Peter Horak, Christoph Heining, Stefan Fröhling, Hanno Glimm

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