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Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.Pageof 5