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European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.
Brain Communications|October 5, 2023
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomaliesAndrea Accogli, Maha S Zaki, Mohammed Al-Owain, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
HGG Advances|March 27, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorderLauretta El Hayek, Ashlesha Gogate, Wei-Chen Chen, et al.
Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.
Brain : a Journal of Neurology|March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
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