Marijn Stokman

TL;DR: The development of next-generation sequencing in basic and clinical research is described and the implementation of this novel technology in routine patient management is discussed, including use of high-throughput disease modelling as a tool to support the clinical diagnosis of kidney diseases.

TL;DR: A novel role is revealed for CEP164 in the pathogenesis of nephronophthisis, in which mutations cause ciliary defects coupled with DNA damage induced replicative stress, cell death, and epithelial-to-mesenchymal transition, and it is suggested that these events drive the characteristic fibrosis observed in nephronsoph thisis kidneys.

TL;DR: The implications of the expanding phenotypic spectra associated with kidney disease genes for clinical practice, genetic counselling and personalized care, and recommendations for the use of NGS-based tests in routine nephrology practice are discussed.

TL;DR: Non-invasive methods of obtaining viable and ciliated primary cells from ciliopathy patients which could be obtained in the home environment are developed and believe that these cells can be used for further ex vivo study of ciliopathies and in the future, for personalized medicine.

TL;DR: It is demonstrated that KIF14 mutations result in a severe syndrome associating microcephaly with renal hypodysplasia and RHD through its conserved function in cytokinesis during kidney and brain development.