-
Kaur, S, Van Bergen, NJ, Ben-Zeev, B, Leonardi, E, Tan, TY, Coman, D, Kamien, B, White, SM, St John, M, Phelan, D, et al.
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Journal of Genetics and Genomics
47(10)
:
650 -654
2020
view publication
-
Kaur, S, Van Bergen, NJ, Verhey, KJ, Nowell, CJ, Budaitis, B, Yue, Y, Ellaway, C, BrunettiāPierri, N, Cappuccio, G, Bruno, I, et al.
Cover, Volume 41, Issue 10.
Human Mutation
41(10)
:
i -i
2020
view publication
-
Van Bergen, NJ, Guo, Y, Al-Deri, N, Lipatova, Z, Stanga, D, Zhao, S, Murtazina, R, Gyurkovska, V, Pehlivan, D, Mitani, T, et al.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability..
Brain
143(1)
:
112 -130
2020
view publication
-
Van Bergen, NJ, Guo, Y, Rankin, J, Paczia, N, Becker-Kettern, J, Kremer, LS, Pyle, A, Conrotte, J-F, Ellaway, C, Procopis, P, et al.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
142(1)
:
50 -58
2019
view publication