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Biallelic variants in YRDC cause a developmental disorder with progeroid features

Familial cleft tongue caused by a unique translation initiation codon variant in TP63

2021 . Schmidt, Julia | Schreiber, Gudrun | Altmüller, Janine | Thiele, Holger | Nürnberg, Peter | Li, Yun | Kaulfuß, Silke | Funke, Rudolf | Wilken, Bernd | Yigit, Gökhan | Wollnik, Bernd

Association between genetic variants of the cholinergic system and postoperative delirium and cognitive dysfunction in elderly patients

2021 . Heinrich, Maria | Sieg, Miriam | Kruppa, Jochen | Nürnberg, Peter | Schreier, Peter H. | Heilmann-Heimbach, Stefanie | Hoffmann, Per | Nöthen, Markus M. | Janke, Jürgen | Pischon, Tobias | Slooter, Arjen J. C. | Winterer, Georg | Spies, Claudia D.

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

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

2020 . Lessel, Ivana | Chen, Mei-Jan | Lüttgen, Sabine | Arndt, Florian | Fuchs, Sigrid | Meien, Stefanie | Thiele, Holger | Jones, Julie R. | Shaw, Brandon R. | Crossman, David K. | Nürnberg, Peter | Korf, Bruce R. | Kubisch, Christian | Lessel, Davor