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JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.Proceedings of the National Academy of Sciences of the United States of America|January 20, 2023
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous systemShyam K Akula, Jack H Marciano, Youngshin Lim, et al.Biorxiv : the Preprint Server for Biology|December 25, 2025
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapesYang Zhang, Vinayak V Viswanadham, Michail Andreopoulos, et al.JAMA Neurology|May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsySattar Khoshkhoo, Yilan Wang, Yasmine Chahine, et al.Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.Science (New York, N.Y.)|October 12, 2023
Comparative transcriptomics reveals human-specific cortical featuresNikolas L Jorstad, Janet H T Song, David Exposito-Alonso, et al.American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, 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.Pageof 34