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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)
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3003 -3012
2017
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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
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Stark, Z, Schofield, D, Alam, K, Wilson, W, Mupfeki, N, Macciocca, I, Shrestha, R, White, SM, Gaff, C.
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement..
Genet Med
19(8)
:
867 -874
2017
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Ylikallio, E, Woldegebriel, R, Tumiati, M, Isohanni, P, Ryan, MM, Stark, Z, Walsh, M, Sawyer, SL, Bell, KM, Oshlack, A, et al.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability..
Brain
140(8)
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2093 -2103
2017
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Miyatake, S, Okamoto, N, Stark, Z, Nabetani, M, Tsurusaki, Y, Nakashima, M, Miyake, N, Mizuguchi, T, Ohtake, A, Saitsu, H, et al.
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome..
J Hum Genet
62(8)
:
741 -746
2017
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