Publications

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2016
Grammatikopoulos, T. et al. Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol 65, 1179-1187 (2016).
Gomez-Ospina, N. et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun 7, 10713 (2016).
2014
Sambrotta, M. et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 46, 326-8 (2014).