Here you will find the latest news about CeGaT and our offer in the field of genetic diagnostics and sequencing services. In addition, you can access our scientific papers, which are regularly published by our interdisciplinary team. Expand your knowledge and stay up to date with our latest information and publications.
Publications
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan # 1, Ralph Gradisch # 2 3, Florian D Vogel 4, Alison J Coffey 5, Daria Salyakina 6, Diana Soler 6, Parul Jayakar 7, Anuj Jayakar 8, Simona E Bianconi 9, [...]
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure
Stefan Zwirner 1, Anan A Abu Rmilah 2, Sabrina Klotz 3, Bent Pfaffenroth 4, Philip Kloevekorn 4, Athina A Moschopoulou 3, Svenja Schuette 3, Mathias Haag 5, Roland Selig 6, Kewei Li 2, Wei [...]
A second hotspot for pathogenic exon-skipping variants in CDC45
Kelly Schoch 1, Mischa S G Ruegg 2, Bridget J Fellows 2, Joseph Cao 3, Sabine Uhrig 4, Stephanie Einsele-Scholz 5, Saskia Biskup 5, Samuel R A Hawarden 6, Vincenzo Salpietro 7, Valeria Capra [...]