Publications

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2020
Jolly, L. A. et al. Missense variant contribution to USP9X-female syndrome. NPJ Genom Med 5, 53 (2020).
2014
Aldinger, K. A. et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet 95, 227-34 (2014).