Biblio
2020
Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJung, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, et al. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2020.
2019
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MMm, Waisfisz Q, et al. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. J Clin Invest. 2019.