-
Stark, Z, Glazer, D, Hofmann, O, Rendon, A, Marshall, CR, Ginsburg, GS, Lunt, C, Allen, N, Effingham, M, Hastings Ward, J, et al.
A call to action to scale up research and clinical genomic data sharing..
Nat Rev Genet
2024
view publication
-
Hocking, DR, Sun, X, Haebich, K, Darke, H, North, KN, Vivanti, G, Payne, JM.
Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study..
J Autism Dev Disord
54(5)
:
1998 -2011
2024
view publication
-
Dias, K-R, Shrestha, R, Schofield, D, Evans, C-A, O'Heir, E, Zhu, Y, Zhang, F, Standen, K, Weisburd, B, Stenton, SL, et al.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort..
Genet Med
26(5)
:
101076
2024
view publication
-
Houweling, PJ, Crossman, V, Tiong, CF, Coles, CA, Taylor, RL, Clayton, JS, Graham, A, Vlahos, K, Howden, SE, North, KN.
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing..
Stem Cell Res
75:
103313
2024
view publication
-
Maier, A, Pride, NA, Hearps, SJC, Shah, N, Porter, M, North, KN, Payne, JM.
Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1..
Child Neuropsychol
30(2)
:
348 -359
2024
view publication