- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | First Faculty of Medicine
- Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 12014 | First Faculty of Medicine
- Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q412005 | First Faculty of Medicine
- Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease2016 | First Faculty of Medicine