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Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; ... (2021). De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics, 59(10), pp. 965-975. BMJ Publishing Group 10.1136/jmedgenet-2021-107751
Ranza, Emmanuelle; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; Guipponi, Michel; Antonarakis, Stylianos E; Absoud, Michael; Goyal, Sushma; Pal, Deb K; Korff, Christian M (2020). SCN8A heterozygous variants are associated with anoxic-epileptic seizures. American journal of medical genetics. Part A, 182(5), pp. 1209-1216. Wiley 10.1002/ajmg.a.61513
