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Neuron|April 4, 2020
A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4YThien A Nguyen, Kunwei Wu, Saurabh Pandey, et al.American Journal of Medical Genetics. Part A|November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway, Barry D Pressman, William B Dobyns, et al.Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.Pageof 5