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Human Molecular Genetics|March 27, 2021
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann SyndromeRaies Ahmed, Shihab Sarwar, Jinghua Hu, et al.Cell Reports|October 13, 2016
Voluntary Running Triggers VGF-Mediated Oligodendrogenesis to Prolong the Lifespan of Snf2h-Null Ataxic MiceMatías Alvarez-Saavedra, Yves De Repentigny, Doo Yang, et al.EMBO Reports|March 1, 2024
PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLSDilan Rasool, Audrey Burban, Ahmad Sharanek, et al.Human Molecular Genetics|May 12, 2023
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defectsRebekah Tillotson, Keqin Yan, Julie Ruston, et al.Scientific Reports|March 12, 2016
Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse lineSheila Smiley, Philip E Nickerson, Lacrimioara Comanita, et al.Nature Communications|June 21, 2014
Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturationMatías Alvarez-Saavedra, Yves De Repentigny, Pamela S Lagali, et al.Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.Biorxiv : the Preprint Server for Biology|June 26, 2025
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental DisordersJacob Ellegood, Antoine Beauchamp, Yohan Yee, et al.Pageof 4