Associated Papers
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N et al.
European Journal of Human Genetics : Ejhg, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Roychaudhury A et al.
Annals of Neurology, 2024
Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.
Lee YR et al.
Research Square, 2023
Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling.
Bustos F et al.
Developmental Cell, 2020
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall T et al.
Frontiers in Medicine, 2017
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.
Niranjan TS et al.
Plos One, 2015
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