-
Clark, MM, Stark, Z, Farnaes, L, Tan, TY, White, SM, Dimmock, D, Kingsmore, SF.
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases..
NPJ Genom Med
3:
16
2018
view publication
-
Tan, TY, Gonzaga-Jauregui, C, Bhoj, EJ, Strauss, KA, Brigatti, K, Puffenberger, E, Li, D, Xie, L, Das, N, Skubas, I, et al.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions..
Am J Hum Genet
101(6)
:
985 -994
2017
view publication
-
Stark, Z, Dashnow, H, Lunke, S, Tan, TY, Yeung, A, Sadedin, S, Thorne, N, Macciocca, I, Gaff, C, Melbourne Genomics Health Alliance, et al.
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data..
Eur J Hum Genet
25(11)
:
1268 -1272
2017
view publication
-
Tan, TY, Dillon, OJ, Stark, Z, Schofield, D, Alam, K, Shrestha, R, Chong, B, Phelan, D, Brett, GR, Creed, E, et al.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions..
JAMA Pediatr
171(9)
:
855 -862
2017
view publication
-
Murray, N, Burgess, B, Hay, R, Colley, A, Rajagopalan, S, McGaughran, J, Patel, C, Enriquez, A, Goodwin, L, Stark, Z, et al.
KBG syndrome: An Australian experience..
Am J Med Genet A
173(7)
:
1866 -1877
2017
view publication