2025

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Bauer C, Kortüm F, Möllring A, Grinstein L, Denecke J, Alawi M, Bähring R, Harms F
SEIZURE-EUR J EPILEP. 2025;129:14-21.

Evaluation of Different National Comprehensive Cancer Network Clinical Practice Guidelines in Prostate Cancer for Germline Genetic Testing in Localized and Locally Recurrent Prostate Cancer
Kachanov M, Volk A, Falkenbach F, Möllring A, Hauke J, Rading K, Frommolt P, Becker K, Graefen M, Schmutzler R, Maurer T, Hahnen E, Budäus L
EUR UROL FOCUS. 2025 [Epub ahead of print].

Reply to Lingyu Guo and Tian An's Letter to the Editor re: Mykyta Kachanov, Alexander E. Volk, Fabian Falkenbach, et al. Evaluation of Different National Comprehensive Cancer Network Clinical Practice Guidelines in Prostate Cancer for Germline Genetic Testing in Localized and Locally Recurrent Prostate Cancer. Eur Urol Focus. In press. https://doi.org/10.1016/j.euf.2025.05.021
Kachanov M, Volk A, Falkenbach F, Möllring A, Hauke J, Rading K, Frommolt P, Becker K, Graefen M, Schmutzler R, Maurer T, Hahnen E, Budäus L
EUR UROL FOCUS. 2025 [Epub ahead of print].

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
Kaschta D, Post C, Gaass F, Al-Tawil M, Arriens V, Balachandran S, Bäumer T, Berge V, Birgel F, Dalski A, Dittmar M, Franke A, Franzenburg S, Fuß J, Gehring B, Gembicki R, Greiten B, Grohte K, Hanker B, Händler K, Harder L, Hellenbroich Y, Herget T, Herrmann G, Hiort O, Hoff K, Hoffmann B, Hornig N, Hüning I, Kautza-Lucht M, Köhler J, Liegmann A, Lisfeld J, Löscher B, Margraf N, Meyenborg M, Möllring A, Muhle H, Penas E, Nommels H, Papingi D, Poggenburg I, Pozojevic J, Rosenstiel P, Recke A, Roberts K, Rösler L, Rust F, Salewski M, Schau-Römer K, Schlein C, Sreenivasan V, Toutouna L, Utermann-Thüsing C, van der Ven A, Volk A, Wehnert J, Wilson S, Woitschach R, Yumiceba V, Zühlke C, Münchau A, Brüggemann N, Vater I, Caliebe A, Nagel I, Spielmann M
GENOME MED. 2025;17(1):100.

2024

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić S, Cybulski C, Van der Post R, Vos J, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams W, Kets C, Haadsma M, Spruijt L, Wevers M, Evans D, Wimmer K, Schnaiter S, Volk A, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong M, Vaz F, Mensenkamp A, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer R
GENET MED. 2024;26(5):.

Letzte Aktualisierung aus dem FIS: 10.10.2025 - 00:35 Uhr