Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome von Au, P.Y.B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K.M, Baynam, G, Dyment, D.A

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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies von Suchowersky, Oksana, Au, P. Y. B., McMillan, J. M., Toppings, N. B., Donovan, L. E.

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An expansion of the phenotype in individuals with SYNCRIP-related neurodevelopmental disorder von Shafiq, T, Feng, J.L, Phillips, L, Murias, K, Ferguson, M, Baranano, K, Acchione, A, Kipkemoi, P, Kipkoech, C, Chepkemoi, E, Abubakar, A, Newton, C, van der Merwe, C, O’Heir, E, Galvin, A, Garcia, A.G, D’Souza, A, Stefanich, J, Shillington, A, Tuttle, A, Torti, E, Zhu, E, Morsink, M.A.J, Lebayle, E, Corneo, B, Ricupero, C.L, Au, P.Y.B, Kline, A.D, Balasubramanian, M, Bain, J, Gillentine, M.A

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Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates von Pijpers, J.A., Au, P.Y.B., Weeke, L.C., Vein, A.A., Smit, L.S., Vilan, A., Jacobs, E., Vries, L.S. de, Steggerda, S.J., Cilio, M.R., Carapancea, E., Cornet, M.C., Appendino, J.P., Peeters-Scholte, C.M.P.C.D.

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174 Cell-based small molecule screening for novel head and neck cancer therapeutics von Liu, F.-F., Yip, K.W., Mao, X., Au, P.Y.B., Hedley, D.W., Chow, S., Dalili, S., Mocanu, J.D., Bastianutto, C., Schimmer, A.

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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants von Kloth, K., Lozic, B., Tagoe, J., Hoffer, M.J.V., Ven, A. van der, Thiele, H., Altmuller, J., Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K., Lessel, D.

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