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Stark, Z, Lunke, S, Brett, GR, Tan, NB, Stapleton, R, Kumble, S, Yeung, A, Phelan, DG, Chong, B, Fernandez, MF, et al.
Rapid genomic testing in acute paediatric care: Is it worth the trouble?.
Pathology
50:
s59
2018
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Morgan, AT, Haaften, LV, van Hulst, K, Edley, C, Mei, C, Tan, TY, Amor, D, Fisher, SE, Koolen, DA.
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia..
Eur J Hum Genet
26(1)
:
75 -84
2018
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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
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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
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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
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