-
Tan, TY, Sedmík, J, Fitzgerald, MP, Halevy, RS, Keegan, LP, Helbig, I, Basel-Salmon, L, Cohen, L, Straussberg, R, Chung, WK, et al.
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
American Journal of Human Genetics
106(4)
:
467 -483
2020
view publication
-
Yigit, G, Saida, K, DeMarzo, D, Miyake, N, Fujita, A, Tan, TY, White, SM, Wadley, A, Toliat, MR, Motameny, S, et al.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Human Mutation
41(3)
:
591 -599
2020
view publication
-
Tan, TY, Lunke, S, Chong, B, Phelan, D, Fanjul-Fernandez, M, Marum, JE, Kumar, VS, Stark, Z, Yeung, A, Brown, NJ, et al.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
European Journal of Human Genetics
27(12)
:
1791 -1799
2019
view publication
-
Sekiguchi, F, Tsurusaki, Y, Okamoto, N, Teik, KW, Mizuno, S, Suzumura, H, Isidor, B, Ong, WP, Haniffa, M, White, SM, et al.
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients.
Journal of Human Genetics
64(12)
:
1173 -1186
2019
view publication
-
Kaur, S, Van Bergen, NJ, Gold, WA, Eggers, S, Lunke, S, White, SM, Ellaway, C, Christodoulou, J.
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient.
Clinical Case Reports
7(12)
:
2476 -2482
2019
view publication