Henrike L. Sczakiel

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães et al. · Nature · 2023 · 152 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

The AP-1-BATF and -BATF3 module is essential for growth, survival and TH17/ILC3 skewing of anaplastic large cell lymphoma

Nikolai Schleußner, Olaf Merkel, Mariantonia Costanza et al. · Leukemia · 2018 · 89 citations · Full text

Life Sciences, Cancer Biology, Oncology +14

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa et al. · medRxiv · 2023 · 24 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · medRxiv · 2023 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16