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- 2016
- Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
- 2013
- Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation
- Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
- 2012
- HNF1B deficiency causes ciliary defects in human cholangiocytes
- 2011
- Noncirrhotic presinusoidal portal hypertension is common in cystic fibrosis-associated liver disease
- 2010
- An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild Gycogen Storage Disease type Ia
- A seven-gene set associated with chronic hypoxia of prognostic importance in hepatocellular carcinoma
- 2008
- Porphyria cutanea tarda and liver disease: a retrospective analysis of 17 cases from a single centre and review of the literature
- Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients
- 2007
- Human hepatic progenitor cells express vasoactive intestinal peptide receptor type 2 and receive nerve endings