-
Rice, GI, Bond, J, Asipu, A, Brunette, RL, Manfield, IW, Carr, IM, Fuller, JC, Jackson, RM, Lamb, T, Briggs, TA, et al.
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response..
Nat Genet
41(7)
:
829 -832
2009
view publication
-
Campos-Xavier, AB, Martinet, D, Bateman, J, Belluoccio, D, Rowley, L, Tan, TY, Baxová, A, Gustavson, K-H, Borochowitz, ZU, Innes, AM, et al.
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia..
Am J Hum Genet
84(6)
:
760 -770
2009
view publication
-
Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice..
J Med Genet
46(2)
:
123 -131
2009
view publication
-
Rinne, T, Clements, SE, Lamme, E, Duijf, PHG, Bolat, E, Meijer, R, Scheffer, H, Rosser, E, Tan, TY, McGrath, JA, et al.
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes..
Hum Mol Genet
17(13)
:
1968 -1977
2008
view publication
-
Tan, TY, Orme, LM, Lynch, E, Croxford, MA, Dow, C, Dewan, PA, Lipton, L.
Biallelic PMS2 mutations and a distinctive childhood cancer syndrome..
J Pediatr Hematol Oncol
30(3)
:
254 -257
2008
view publication