Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies

por Förster, Alisa, Decker, Melanie, Schlegelberger, Brigitte, Ripperger, Tim
Publicado 2022

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

por Osmanovic, Alma, Förster, Alisa, Widjaja, Maylin, Auber, Bernd, Das, Anibh M., Christians, Anne, Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Publicado 2022

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

por Osmanovic, Alma, Widjaja, Maylin, Förster, Alisa, Weder, Julia, Wattjes, Mike P., Lange, Inken, Sarikidi, Anastasia, Auber, Bernd, Raab, Peter, Christians, Anne, Preller, Matthias, Petri, Susanne, Weber, Ruthild G.
Publicado 2020

Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families

por Weber, Christine A. M., Krönke, Nicole, Volk, Valery, Auber, Bernd, Förster, Alisa, Trost, Detlef, Geffers, Robert, Esmaeilzadeh, Majid, Lalk, Michael, Nabavi, Arya, Samii, Amir, Krauss, Joachim K., Feuerhake, Friedrich, Hartmann, Christian, Wiese, Bettina, Brand, Frank, Weber, Ruthild G.
Publicado 2023

Validation and clinical application of transactivation assays for RUNX1 variant classification

por Decker, Melanie, Agarwal, Anupriya, Benneche, Andreas, Churpek, Jane, Duployez, Nicolas, Duvall, Adam, Ernst, Martijn P. T., Förster, Alisa, Høberg-Vetti, Hildegunn, Hofmann, Inga, Nash, Michelle, Raaijmakers, Marc H. G. P., Tvedt, Tor H. A., Vlachos, Adrianna, Schlegelberger, Brigitte, Illig, Thomas, Ripperger, Tim
Publicado 2022

Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

por Förster, Alisa, Brand, Frank, Banan, Rouzbeh, Hüneburg, Robert, Weber, Christine A. M., Ewert, Wiebke, Kronenberg, Jessica, Previti, Christopher, Elyan, Natalie, Beyer, Ulrike, Martens, Helge, Hong, Bujung, Bräsen, Jan H., Erbersdobler, Andreas, Krauss, Joachim K., Stangel, Martin, Samii, Amir, Wolf, Stephan, Preller, Matthias, Aretz, Stefan, Wiese, Bettina, Hartmann, Christian, Weber, Ruthild G.
Publicado 2021