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- (2021). Biological variation of cardiac myosin-binding protein C in healthy individuals. Clinical Chemistry and Laboratory Medicine. 8 pages.
- (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. Journal of Clinical Endocrinology and Metabolism (JCEM). e1377-e1386.
- (2018). Identification of an alternatively spliced nuclear isoform of human N-terminal acetyltransferase Naa30. Gene. 27-37.
- (2017). Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. Pancreatology (Print). 83-88.
- (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
- (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 518-522.
- (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 29097-29111.
- (2013). The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (Print). 29-32.
- (2011). Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY) A PROTEIN MISFOLDING DISEASE. Journal of Biological Chemistry. 34593-34605.
- (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics. 55-64.
- (2006). Cloning and characterization of hNAT5/hSAN: An evolutionarily conserved component of the NatA protein N-alpha-acetyltransferase complex. Gene.
- (2021). Biological variation, reference change values and index of individuality of GDF-15. Clinical Chemistry and Laboratory Medicine. 1-4.
- (2011). Pancreatic exocrine dysfunction and diabetes: Molecular and functional studies of the carboxyl-ester lipase gene.
- (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. S152-S152.
- (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. S123-S123.
- (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. S123-S124.
Academic literature review
- (2021). Biological variation of secretoneurin; a novel cardiovascular biomarker implicated in arrhythmogenesis. Clinical Biochemistry. 74-77.
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