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Nucleic Acids Research|November 5, 2015
JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profilesAnthony Mathelier, Oriol Fornes, David J Arenillas, et al.Journal of Medical Genetics|December 1, 2020
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome regionXin Cynthia Ye, Nicole M Roslin, Andrew D Paterson, et al.Nucleic Acids Research|November 7, 2013
JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profilesAnthony Mathelier, Xiaobei Zhao, Allen W Zhang, et al.Orphanet Journal of Rare Diseases|April 18, 2015
The genotypic and phenotypic spectrum of PIGA deficiencyMaja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, et al.Neuroscience|June 1, 2018
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder PhenotypeGabriella A Horvath, Yulin Zhao, Maja Tarailo-Graovac, et al.Neurogenetics|July 2, 2021
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effectsClara D van Karnebeek, Ingrid Blydt-Hansen, Allison M Matthews, et al.Orphanet Journal of Rare Diseases|September 20, 2014
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingSylvia Stockler, Silvia Corvera, David Lambright, et al.Molecular Genetics and Metabolism|December 10, 2015
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?Gabriella A Horvath, Michelle Demos, Casper Shyr, et al.Orphanet Journal of Rare Diseases|April 18, 2015
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptomsSandra Sirrs, Clara D M van Karnebeek, Xiaoxue Peng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2018
Atypical cerebral palsy: genomics analysis enables precision medicineAllison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, et al.Pageof 3