Publications

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Author Title [ Year(Desc)]
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2013
Boone, P. M. et al. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 15, 45-54 (2013).
2014
Carvalho, C. M. B. et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
2015
Ng, B. G. et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Hum Mutat 36, 1048-51 (2015).
Bachmann-Gagescu, R. et al. KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat 36, 831-5 (2015).