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Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

2021 . Schoof, Melanie | Kordes, Uwe | Volk, Alexander E. | Al-Kershi, Sina | Kresbach, Catena | Schüller, Ulrich

Cell Type-Specific Role of RNA Nuclease SMG6 in Neurogenesis

2021 . Guerra, Gabriela Maria | May, Doreen | Kroll, Torsten | Koch, Philipp | Groth, Marco | Wang, Zhao-Qi | Li, Tangliang | Grigaravičius, Paulius

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32

2021 . Lehmkuhl, Peter | Gentz, Magdalena | Garcia de Otezya, Andres Caballero | Grimbacher, Bodo | Schulze-Koops, Hendrik | Skapenko, Alla

Clonal hematopoiesis and its emerging effects on cellular therapies

2021 . von Bonin, Malte | Jambor, Helena | Teipel, Raphael | Stölzel, Friedrich | Thiede, Christian | Damm, Frederik | Kroschinsky, Frank | Schetelig, Johannes | Chavakis, Triantafyllos | Bornhauser, Martin

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia

2021 . Nolte, Dagmar | Kang, Jun-Suk | Hofmann, Amrei | Schwaab, Eva | Krämer, Heidrun H. | Müller, Ulrich

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

2020 . Ufartes, Roser | Berger, Hanna | Till, Katharina | Salinas, Gabriela | Sturm, Marc | Altmüller, Janine | Nürnberg, Peter | Thiele, Holger | Funke, Rudolf | Apeshiotis, Neophytos | Langen, Hendrik | Wollnik, Bernd | Borchers, Annette | , Silke

The repertoire of mutational signatures in human cancer

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

2020 . 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.

Validation and refinement of the revised 2017 European LeukemiaNet genetic risk stratification of acute myeloid leukemia

IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction—a retrospective propensity score analysis

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