-
Vegas, N, Demir, Z, Gordon, CT, Breton, S, Tavares, VLR, Moisset, H, Zechi‐Ceide, R, Kokitsu‐Nakata, NM, Kido, Y, Marlin, S, et al.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Human Mutation
43(5)
:
582 -594
2022
view publication
-
Goranitis, I, Wu, Y, Lunke, S, White, SM, Tan, TY, Yeung, A, Hunter, MF, Martyn, M, Gaff, C, Stark, Z.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.
Genetics in Medicine
24(5)
:
1037 -1044
2022
view publication
-
Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
American Journal of Human Genetics
109(4)
:
601 -617
2022
view publication
-
Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Human Molecular Genetics
31(3)
:
362 -375
2022
view publication
-
Shah, M, Selvanathan, A, Baynam, G, Berman, Y, Boughtwood, T, Freckmann, M, Parasivam, G, White, SM, Grainger, N, Kirk, EP, et al.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
Journal of Paediatrics and Child Health
58(1)
:
8 -15
2022
view publication