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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

2021 . Denisova, Evgeniya | Westphal, Dana | Surowy, Harald | Meier, Friedegund | Hutter, Barbara | Reifenberger, Julia | Rütten, Arno | Schulz, Alexander | Sergon, Mildred | Ziemer, Mirjana | Brors, Benedikt | Betz, Regina | Redler, Silke

Clinico-genetic findings in 509 frontotemporal dementia patients

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

2021 . Markus, Fenja | Kannengießer, Annika | Näder, Patricia | Atigbire, Paul | Scholten, Alexander | Vössing, Christine | Bültmann, Eva | Korenke, G. Christoph | Owczarek-Lipska, Marta | Neidhardt, John

Combining callers improves the detection of copy number variants from whole-genome sequencing

2021 . Coutelier, Marie | Holtgrewe, Manuel | Jäger, Marten | Flöttman, Ricarda | Mensah, Martin Atta | Spielmann, Malte | Krawitz, Peter | Horn, Denise | Beule, Dieter | Mundlos, Stefan