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Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Brain : a Journal of Neurology|October 15, 2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorderEleanor G Seaby, Annie Godwin, Géraldine Meyer-Dilhet, et al.
European Journal of Human Genetics : EJHG|June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
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