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Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.Human Molecular Genetics|September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localizationAnne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.American Journal of Respiratory and Critical Care Medicine|July 19, 2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung DiseaseMatina Prapa, Mauro Lago-Docampo, Emilia M Swietlik, et al.American Journal of Human Genetics|July 31, 2018
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental DisorderAnne Gregor, Lynette G Sadleir, Reza Asadollahi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Mehdi Benkirane, Elisa Cali, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disordersEva Berger, Robin-Tobias Jauss, Judith D Ranells, et al.Multiple Sclerosis and Related Disorders|July 7, 2020
Treatment of MOG-IgG-associated disorder with rituximab: An international study of 121 patientsDaniel H Whittam, Alvaro Cobo-Calvo, A Sebastian Lopez-Chiriboga, et al.Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.Nature Methods|April 11, 2024
brainlife.io: a decentralized and open-source cloud platform to support neuroscience researchSoichi Hayashi, Bradley A Caron, Anibal Sólon Heinsfeld, et al.Arxiv|June 19, 2023
brainlife.io: A decentralized and open source cloud platform to support neuroscience researchSoichi Hayashi, Bradley A Caron, Anibal Sólon Heinsfeld, et al.Pageof 17