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Annals of Neurology|June 29, 2021
Genome-Wide Association Study Identifies Risk Loci for Cluster HeadacheEmer O'Connor, Carmen Fourier, Caroline Ran, et al.Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.Pageof 3