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Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.Annals of Oncology : Official Journal of the European Society for Medical Oncology|December 20, 2024
A model for decoding resistance in precision oncology: acquired resistance to FGFR inhibitors in cholangiocarcinomaL Goyal, D DiToro, F Facchinetti, et al.Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.Journal of Neurointerventional Surgery|March 26, 2025
Multicenter analysis of flow diversion for recurrent/persistent intracranial aneurysms after stent-assisted coilingMohamed M Salem, Ahmed Helal, Avi A Gajjar, et al.Mayo Clinic Proceedings|December 3, 2024
Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic EducationLorelei A Bandel, Robert A Vierkant, Teresa M Kruisselbrink, et al.The New England Journal of Medicine|September 3, 2020
Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral SclerosisSabrina Paganoni, Eric A Macklin, Suzanne Hendrix, et al.Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.Pageof 176