Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Phenotype and Author is Roosing, Susanne  [Clear All Filters]
2017
Marin-Valencia, I. et al. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. Am J Hum Genet 101, 441-450 (2017).
2016
Roosing, S. et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet 53, 608-15 (2016).
2015
Wheway, G. et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol 17, 1074-1087 (2015).