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Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderNour Elkhateeb, Renarta Crookes, Michael Spiller, et al.Pageof 1