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American Journal of Human Genetics|June 8, 2021
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsyMuhammad A Usmani, Zubair M Ahmed, Pamela Magini, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 femalesD L Polla, E J Bhoj, J B G M Verheij, et al.Genetics in Medicine Open|December 13, 2024
ARID1B-related disorder in 87 adults: Natural history and self-sustainabilityP J van der Sluijs, M Gösgens, A J M Dingemans, et al.Pageof 6