-
Altmüller, F, Lissewski, C, Bertola, D, Flex, E, Stark, Z, Spranger, S, Baynam, G, Buscarilli, M, Dyack, S, Gillis, J, et al.
Genotype and phenotype spectrum of NRAS germline variants..
Eur J Hum Genet
25(7)
:
823 -831
2017
view publication
-
Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9..
Am J Med Genet A
173(3)
:
820 -823
2017
view publication
-
Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, et al.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort..
Genome Biol
17(1)
:
243
2016
view publication
-
Stark, Z, Tan, TY, Chong, B, Brett, GR, Yap, P, Walsh, M, Yeung, A, Peters, H, Mordaunt, D, Cowie, S, et al.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders..
Genet Med
18(11)
:
1090 -1096
2016
view publication
-
Farlie, PG, Baker, NL, Yap, P, Tan, TY.
Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology..
Mol Syndromol
7(6)
:
312 -321
2016
view publication