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Hood, RL, McGillivray, G, Hunter, MF, Roberston, SP, Bulman, DE, Boycott, KM, Stark, Z, Care4Rare Canada Consortium.
Severe connective tissue laxity including aortic dilatation in Sotos syndrome..
Am J Med Genet A
170A(2)
:
531 -535
2016
view publication
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Burns, C, Cheung, A, Stark, Z, Choo, S, Downie, L, White, S, Conyers, R, Cole, T.
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature..
J Allergy Clin Immunol Pract
4(4)
:
777 -779
2016
view publication
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Yap, P, McGillivray, G, Norris, F, Said, JM, Kornman, L, Stark, Z.
Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases..
Prenat Diagn
35(12)
:
1265 -1267
2015
view publication
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Guy, MP, Shaw, M, Weiner, CL, Hobson, L, Stark, Z, Rose, K, Kalscheuer, VM, Gecz, J, Phizicky, EM.
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1..
Hum Mutat
36(12)
:
1176 -1187
2015
view publication
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Lissewski, C, Kant, SG, Stark, Z, Schanze, I, Zenker, M.
Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?.
Am J Med Genet A
167A(11)
:
2685 -2690
2015
view publication