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Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039
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
