Bruel, A L, Vitobello, A, Thiffault, I, Manwaring, L, Willing, M, Agrawal, P B, Bayat, A, Kitzler, T M, Brownstein, C A, Genetti, C A, Gonzalez-Heydrich, J, Jayakar, P, Zyskind, J W, Zhu, Z, Vachet, C, Wilson, G R, Pruniski, B, Goyette, A M, Duffourd, Y, Thauvin-Robinet, C, Philippe, C & Faivre, L 2022, ' ITSN1 : a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum ', European Journal of Human Genetics, vol. 30, pp. 111-116 . https://doi.org/10.1038/s41431-021-00985-9 Eur J Hum Genet
Science Advances, 6(49):eabc9207. American Association for the Advancement of Science Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, ' Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207 Science advances, 6(49):9207. American Association for the Advancement of Science Science advances, 6(49):eabc9207. American Association for the Advancement of Science Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207 Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207 Sci. Adv. 6:106267 (2020)