Publications

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Author Title [ Year(Desc)]
Filters: Author is Ji, Weizhen  [Clear All Filters]
2013
Lemaire, M. et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet 45, 531-6 (2013).
2015
Stuart, B. D. et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nat Genet 47, 512-7 (2015).
2020
Marquez, J. et al. variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet (2020). doi:10.1136/jmedgenet-2019-106805