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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsySakshi Singh, Aditi Gupta, Michael Zech, et al.Neurology|May 18, 2022
Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal DementiaGianina Toller, Yann Cobigo, Peter A Ljubenkov, et al.Human Genetics|March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome dataAlejandro Ferrer, Patrick Duffy, Rory J Olson, et al.Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.Neurology|July 5, 2022
Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar DegenerationPhilip Wade Tipton, Angela B Deutschlaender, Rodolfo Savica, et al.Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.Pageof 6