Genetics in Medicine Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩ Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013
Brain r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol instname Brain-A Journal of Neurology Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩ Dipòsit Digital de la UB Universidad de Barcelona Scientia
Genetics in Medicine Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩ Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩