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Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

2021 . Decker, Melanie | Lammens, Tim | Ferster, Alina | Erlacher, Miriam | Yoshimi, Ayami | Niemeyer, Charlotte | Ernst, Martijn P. T. | Raaijmakers, Marc H. G. P. | Duployez, Nicolas | Flaum, Andreas | Steinemann, Doris | Schlegelberger, Brigitte | Illig, Thomas | Ripperger, Tim

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

2021 . Buelow, Markus | Süßmuth, David | Smith, Laurie D. | Aryani, Omid | CASTIGLIONI, CLAUDIA | Stenzel, Werner | Bertini, Enrico | Schuelke, Markus | Knierim, Ellen

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

2020 . Le Duc, Diana | Hentschel, Julia | Neuser, Sonja | Stiller, Mathias | Meier, Carolin | Jäger, Elisabeth | Abou Jamra, Rami | Platzer, Konrad | Monecke, Astrid | Ziemer, Mirjana | Markovic, Aleksander | Bläker, Hendrik | Lemke, Johannes

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery