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Nature Genetics|April 28, 2019
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Frontiers in Molecular Neuroscience|April 23, 2024
Allelic heterogeneity and abnormal vesicle recycling in <i>PLAA</i>-related neurodevelopmental disordersMichele Iacomino, Nadia Houerbi, Sara Fortuna, et al.
Brain : a Journal of Neurology|February 24, 2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, et al.
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.
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