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American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.Annals of Clinical and Translational Neurology|August 11, 2020
Neuronal intranuclear inclusion disease is genetically heterogeneousZhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, et al.Brain : a Journal of Neurology|September 11, 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelinationStephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, et al.Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.Human Genomics|July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismEvin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.Brain : a Journal of Neurology|May 10, 2021
RFC1 expansions are a common cause of idiopathic sensory neuropathyRiccardo Currò, Alessandro Salvalaggio, Stefano Tozza, et al.Pageof 18