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Wenger, T, Li, D, Harr, MH, Tan, W-H, Pellegrino, R, Stark, Z, Hakonarson, H, Bhoj, EJ.
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins..
Am J Med Genet A
176(1)
:
75 -81
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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Cuvertino, S, Stuart, HM, Chandler, KE, Roberts, NA, Armstrong, R, Bernardini, L, Bhaskar, S, Callewaert, B, Clayton-Smith, J, Davalillo, CH, et al.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder..
Am J Hum Genet
101(6)
:
1021 -1033
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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Yates, TM, Vasudevan, PC, Chandler, KE, Donnelly, DE, Stark, Z, Sadedin, S, Willoughby, J, Broad Center for Mendelian Genomics, DDD study, Balasubramanian, M.
De novo mutations in HNRNPU result in a neurodevelopmental syndrome..
Am J Med Genet A
173(11)
:
3003 -3012
2017
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